Glycogen storage disease type VII: Difference between revisions
Feham Tariq (talk | contribs) |
|||
(98 intermediate revisions by 3 users not shown) | |||
Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
'''For the main page on glycogen storage disease, please click [[Glycogen storage disease|here]]'''<br> | |||
{{SI}} | {{SI}} | ||
{{CMG}}; {{AE}} {{FT}} | {{CMG}}; {{AE}} {{FT}}, {{Anmol}} | ||
{{SK}} | {{SK}}Tarui's disease; glycogen storage disease type 7; GSD type VII; phosphofructokinase deficiency; muscle phosphofructokinase deficiency | ||
==Overview== | ==Overview== | ||
[[Glycogen storage disease|Glycogen]] storage disease type VII (Tarui's disease) is a rare [[autosomal recessive]] disease, clinically characterized by early [[Physical exercise|exercise]] intolerance which manifests during childhood, with muscle pain and [[myoglobinuria]] after exercise or strenuous exercise. In 1965, Tarui first described the [[phosphofructokinase]] (PFK) deficiency in 3 siblings with easy [[Fatigue|fatigability]] and [[exercise intolerance]]. GSD type VII is caused by [[mutation]] of [[phosphofructokinase]] gene located at 12q13 for the M ([[muscle]] isoform) that results in a deficiency of the [[phosphofructokinase]] enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate. | |||
==Historical Perspective== | ==Historical Perspective== | ||
The historical perspective of the glycogen | The historical perspective of the glycogen storage disease type VII is as follows:<ref name="pmid14339001">{{cite journal |vauthors=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M |title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS |journal=Biochem. Biophys. Res. Commun. |volume=19 |issue= |pages=517–23 |year=1965 |pmid=14339001 |doi= |url=}}</ref><ref name="pmid18421897">{{cite journal |vauthors=Toscano A, Musumeci O |title=Tarui disease and distal glycogenoses: clinical and genetic update |journal=Acta Myol |volume=26 |issue=2 |pages=105–7 |year=2007 |pmid=18421897 |pmc=2949577 |doi= |url=}}</ref><ref name="pmid10365541">{{cite journal| author=Lin HC, Young C, Wang PJ, Shen YZ| title=Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. | journal=J Formos Med Assoc | year= 1999 | volume= 98 | issue= 3 | pages= 205-8 | pmid=10365541 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10365541 }} </ref><ref name="pmid11949936">{{cite journal| author=Nakajima H, Raben N, Hamaguchi T, Yamasaki T| title=Phosphofructokinase deficiency; past, present and future. | journal=Curr Mol Med | year= 2002 | volume= 2 | issue= 2 | pages= 197-212 | pmid=11949936 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11949936 }} </ref><ref name="pmid4228753">{{cite journal| author=Satoyoshi E, Kowa H| title=A myopathy due to glycolytic abnormality. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 3 | pages= 248-56 | pmid=4228753 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228753 }} </ref><ref name="pmid6444532">{{cite journal| author=Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S| title=The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. | journal=Blood | year= 1980 | volume= 55 | issue= 4 | pages= 629-35 | pmid=6444532 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6444532 }} </ref><ref name="pmid6220601">{{cite journal| author=Tani K, Fujii H, Takegawa S, Miwa S, Koyama W, Kanayama M et al.| title=Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. | journal=Am J Hematol | year= 1983 | volume= 14 | issue= 2 | pages= 165-74 | pmid=6220601 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6220601 }} </ref> | ||
*In 1965, Tarui first described the [[phosphofructokinase]] (PFK) deficiency in 3 siblings with easy [[Fatigue|fatigability]] and [[exercise intolerance]]. | *In 1965, Tarui first described the [[phosphofructokinase]] (PFK) deficiency in 3 siblings with easy [[Fatigue|fatigability]] and [[exercise intolerance]]. | ||
*In 1967, Layer et al suggested [[autosomal recessive]] inheritence of the disease by detecting the disease in a 18 year old male. | *In 1967, Layer et al suggested [[autosomal recessive]] inheritence of the disease by detecting the disease in a 18 year old male. | ||
*Also in 1967, Satoyoshi and Kowa postulated the role of a inhibitor in the development of disease. | *Also in 1967, Satoyoshi and Kowa postulated the role of a inhibitor in the development of disease. | ||
*In 1980, Vora et al | *In 1980, Vora et al studied a patient with [[myopathy]] and [[hemolysis]] which were assosciated with PFK deficiency. | ||
*In 1983 Tani et al | *In 1983 Tani et al studied two Japanese with congenital non-spherocytic [[hemolytic anemia]] and mild [[myopathy]], having [[erythrocyte]] PFK deficiency. | ||
==Classification== | ==Classification== | ||
[ | There is no established [[classification]] of glycogen storage disease type VII. | ||
==Pathophysiology== | ==Pathophysiology== | ||
*[[Mutation|Mutations]] in the PFKM gene cause [[Glycogen storage disease|glycogen]] storage disease type VII. | ===Pathogenesis=== | ||
*[[Mutation|Mutations]] in the [[phosphofructokinase]] (PFKM) gene cause [[Glycogen storage disease|glycogen]] storage disease type VII.<ref name="pmid7603524">{{cite journal| author=Nakajima H, Hamaguchi T, Yamasaki T, Tarui S| title=Phosphofructokinase deficiency: recent advances in molecular biology. | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue= | pages= S28-34 | pmid=7603524 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603524 }} </ref> | |||
*PFKM gene signals to make the PFKM subunit of an enzyme called [[phosphofructokinase]], which plays a key role in the [[metabolism]] of the [[glycogen]]. | *PFKM gene signals to make the PFKM subunit of an enzyme called [[phosphofructokinase]], which plays a key role in the [[metabolism]] of the [[glycogen]]. | ||
*The [[phosphofructokinase]] enzyme is made up of four subunits and is found in a variety of tissues. | *The [[phosphofructokinase]] enzyme is made up of four subunits and is found in a variety of [[Tissue (biology)|tissues]]. | ||
* | *Various tissues have different combinations of these four subunits of [[phosphofructokinase]] enzyme. | ||
*In [[Skeleton|skeletal]] muscles where the main source of energy is stored [[glycogen]], the [[phosphofructokinase]] enzyme is solely composed of the PFKM subunits. | *In [[Skeleton|skeletal]] muscles where the main source of [[energy]] is stored [[glycogen]], the [[phosphofructokinase]] enzyme is solely composed of the [[PFKM]] subunits. | ||
*To maintain normal blood sugar levels between meals or during exercise, [[glycogen]] is metabolized rapidly into the when energy is needed. | *To maintain normal blood sugar levels between meals or during exercise, [[glycogen]] is metabolized rapidly into the when energy is needed. | ||
*[[Phosphofructokinase]] is involved in the above-mentioned chain of events that metabolizes [[glycogen]] to provide [[energy]] to muscle cells. | *[[Phosphofructokinase]] is involved in the above-mentioned chain of events that metabolizes [[glycogen]] to provide [[energy]] to muscle cells. | ||
*The mutations of the PFKM gene results in non-functional or dysfunctional PFKM subunits. | *The [[Mutation|mutations]] of the [[PFKM]] gene results in non-functional or dysfunctional [[PFKM]] subunits. | ||
*As a result, no functional phosphofructokinase is formed in skeletal muscles, and glycogen cannot be metabolized completely resulting in the accumulation of the partially metabolized [[glycogen]] in the [[Skeleton|skeletal]] muscle cells. | *As a result, no functional [[phosphofructokinase]] is formed in [[Skeleton|skeletal]] [[Muscle|muscles]], and [[glycogen]] cannot be metabolized completely resulting in the accumulation of the partially metabolized [[glycogen]] in the [[Skeleton|skeletal]] [[muscle cells]]. | ||
*If these skeletal muscles are put to a moderate strain such as [[Physical exercise|exercise]], [[Cramp|cramping]] ensues as these muscles do not have access to [[glycogen]] as an [[energy]] source. | *If these skeletal [[Muscle|muscles]] are put to a moderate strain such as [[Physical exercise|exercise]], [[Cramp|cramping]] ensues as these muscles do not have access to [[glycogen]] as an [[energy]] source. | ||
*In other tissues, other subunits that make up the phosphofructokinase enzyme likely compensate for the lack of PFKM subunits, and the enzyme is able to retain some function, this compensation may help explain why other tissues are not affected by PFKM [[gene]] [[Mutation|mutations]]. | *In other tissues, other subunits that make up the [[phosphofructokinase]] enzyme likely compensate for the lack of [[PFKM]] subunits, and the enzyme is able to retain some function, this compensation may help explain why other tissues are not affected by [[PFKM]] [[gene]] [[Mutation|mutations]]. | ||
===Metabolic Pathway=== | |||
[[File:GSD TYPE VII.png|center|800px|frame| Metabolic pathways showing defects in glycogen storage disease VII, (ɔ) Image courtesy of WikiDoc.org, by '''"[[User:Anmol Pitliya|Dr. Anmol Pitliya]]"''']] | |||
===Genetics=== | ===Genetics=== | ||
* | *Glycogen storage disease type VII is inherited in an [[Autosome|autosomal]] recessive pattern, which means both copies of the gene in each cell have mutations.<ref name="HowardAkots1996">{{cite journal|last1=Howard|first1=Timothy D.|last2=Akots|first2=Gita|last3=Bowden|first3=Donald W.|title=Physical and Genetic Mapping of the Muscle Phosphofructokinase Gene (PFKM): Reassignment to Human Chromosome 12q|journal=Genomics|volume=34|issue=1|year=1996|pages=122–127|issn=08887543|doi=10.1006/geno.1996.0250}}</ref><ref name="pmid10081651">{{cite journal| author=Vestergaard H| title=Studies of gene expression and activity of hexokinase, phosphofructokinase and glycogen synthase in human skeletal muscle in states of altered insulin-stimulated glucose metabolism. | journal=Dan Med Bull | year= 1999 | volume= 46 | issue= 1 | pages= 13-34 | pmid=10081651 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10081651 }} </ref><ref name="Inal GultekinRaj2012">{{cite journal|last1=Inal Gultekin|first1=G.|last2=Raj|first2=K.|last3=Lehman|first3=S.|last4=Hillström|first4=A.|last5=Giger|first5=U.|title=Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog|journal=Molecular and Cellular Probes|volume=26|issue=6|year=2012|pages=243–247|issn=08908508|doi=10.1016/j.mcp.2012.02.004}}</ref> | ||
*Disease manifests when there is a mutation in the gene for M (muscle isoform), L (liver isoform) and P (platelet isoform) of [[phosphofructokinase]] enzyme.<ref name="pmid2944814">{{cite journal| author=Van Keuren M, Drabkin H, Hart I, Harker D, Patterson D, Vora S| title=Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. | journal=Hum Genet | year= 1986 | volume= 74 | issue= 1 | pages= 34-40 | pmid=2944814 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2944814 }} </ref><ref name="pmid6222962">{{cite journal| author=Vora S, Miranda AF, Hernandez E, Francke U| title=Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes. | journal=Hum Genet | year= 1983 | volume= 63 | issue= 4 | pages= 374-9 | pmid=6222962 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6222962 }} </ref><ref name="pmid7550225">{{cite journal| author=Raben N, Sherman JB| title=Mutations in muscle phosphofructokinase gene. | journal=Hum Mutat | year= 1995 | volume= 6 | issue= 1 | pages= 1-6 | pmid=7550225 | doi=10.1002/humu.1380060102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7550225 }} </ref><ref name="pmid8659544">{{cite journal| author=Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N| title=Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. | journal=Am J Hum Genet | year= 1996 | volume= 59 | issue= 1 | pages= 59-65 | pmid=8659544 | doi= | pmc=1915105 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8659544 }} </ref><ref name="pmid6227585">{{cite journal| author=Vora S| title=Isozymes of human phosphofructokinase: biochemical and genetic aspects. | journal=Isozymes Curr Top Biol Med Res | year= 1983 | volume= 11 | issue= | pages= 3-23 | pmid=6227585 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6227585 }} </ref> | |||
* | *A variety of [[Mutation|mutations]] can occur, one of which is alteration of [[splice]] site leading to [[exon]] skipping and single [[nucleotide]] [[mutation]] leading to 95% of causes of glycogen storage disease type VII.<ref name="pmid7603525">{{cite journal| author=Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P| title=Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue= | pages= S35-8 | pmid=7603525 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603525 }} </ref><ref name="pmid8037209">{{cite journal| author=Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM et al.| title=Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. | journal=Am J Hum Genet | year= 1994 | volume= 55 | issue= 2 | pages= 305-13 | pmid=8037209 | doi= | pmc=1918380 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8037209 }} </ref><ref name="pmid6306441">{{cite journal| author=Dunaway GA| title=A review of animal phosphofructokinase isozymes with an emphasis on their physiological role. | journal=Mol Cell Biochem | year= 1983 | volume= 52 | issue= 1 | pages= 75-91 | pmid=6306441 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6306441 }} </ref><ref name="pmid7550225">{{cite journal| author=Raben N, Sherman JB| title=Mutations in muscle phosphofructokinase gene. | journal=Hum Mutat | year= 1995 | volume= 6 | issue= 1 | pages= 1-6 | pmid=7550225 | doi=10.1002/humu.1380060102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7550225 }} </ref> | ||
* | |||
===Microscopic findings=== | ===Microscopic findings=== | ||
The following changes are seen in the muscle on muscle biopsy | The following changes are seen in the muscle on [[muscle]] biopsy:<ref name="pmid4243256">{{cite journal| author=Bonilla E, Schotland DL| title=Histochemical diagnosis of muscle phosphofructokinase deficiency. | journal=Arch Neurol | year= 1970 | volume= 22 | issue= 1 | pages= 8-12 | pmid=4243256 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4243256 }} </ref><ref name="pmid10365541">{{cite journal| author=Lin HC, Young C, Wang PJ, Shen YZ| title=Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. | journal=J Formos Med Assoc | year= 1999 | volume= 98 | issue= 3 | pages= 205-8 | pmid=10365541 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10365541 }} </ref><ref name="pmid6943439">{{cite journal| author=Hays AP, Hallett M, Delfs J, Morris J, Sotrel A, Shevchuk MM et al.| title=Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. | journal=Neurology | year= 1981 | volume= 31 | issue= 9 | pages= 1077-86 | pmid=6943439 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6943439 }} </ref> | ||
* Muscle fiber [[necrosis]] | * Muscle fiber [[necrosis]] | ||
* Moderate excess of subsarcolemmal [[glycogen]] accumulation on periodic acid- | * Increased variation in the fibre size | ||
* In 10% of muscle fibers, diastase-resistant, long filamentous [[inclusions]] are seen | * Ring fibers | ||
* Iodine absorption spectra of both the inclusions and a diastase-resistant fraction of isolated glycogen resembled [[amylopectin]] | * Endomyosial [[fibrosis]] | ||
* Moderate excess of subsarcolemmal [[glycogen]] accumulation on [[periodic acid-Schiff]] (PAS) staining | |||
* In 10% of [[muscle]] fibers, diastase-resistant, long filamentous [[inclusions]] are seen | |||
* Iodine absorption spectra of both the inclusions and a diastase-resistant fraction of isolated glycogen resembled [[amylopectin]] | |||
* The abnormal [[polysaccharide]] in PFK deficiency may be related to greatly elevated concentration of muscle [[glucose-6-phosphate]], an activator of the chain-elongating enzyme [[glycogen synthase]] | |||
==Causes== | ==Causes== | ||
*Glycogen storage disease type VII is inherited as an autosomal recessive genetic disorder. | *Glycogen storage disease type VII is inherited as an [[Autosome|autosomal]] recessive [[Genetics|genetic]] disorder. | ||
*GSD type VII is caused by mutation of phosphofructokinase gene | *GSD type VII is caused by [[mutation]] of [[phosphofructokinase]] gene located at 12q13 for the M ([[muscle]] isoform) that results in a deficiency of the [[phosphofructokinase]] enzyme which converts [[fructose-6-phosphate]] to fructose-1,6-diphosphate.<ref name="pmid8661033">{{cite journal| author=Howard TD, Akots G, Bowden DW| title=Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. | journal=Genomics | year= 1996 | volume= 34 | issue= 1 | pages= 122-7 | pmid=8661033 | doi=10.1006/geno.1996.0250 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8661033 }} </ref> | ||
*This is the rate-limiting step in the metabolism of the glucose into available energy, if the phosphofructokinase is deficient, energy is not available to muscles during heavy exercise and hence pain and cramps occur in the muscle. | *This is the rate-limiting step in the [[metabolism]] of the [[glucose]] into available energy, if the [[phosphofructokinase]] is deficient, energy is not available to muscles during heavy [[Physical exercise|exercise]] and hence pain and [[Cramp|cramps]] occur in the muscle. | ||
==Differentiating | ==Differentiating Glycogen Storage Disease Type VII from Other Diseases== | ||
<small> | |||
{| | {| | ||
| ''' | ! colspan="15" style="background:#4479BA; color: #FFFFFF;" align="center" + | Differentiating Glycogen Storage Diseases | ||
|- | |||
! colspan="3" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Glycogen storage disease | |||
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Enzyme deficiency | |||
! colspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Genetics | |||
! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |History and symptoms | |||
! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical examination | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Laboratory findings | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Imaging | |||
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features | |||
|- | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Gene mutation | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Inheritance | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Chromosome | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hypoglycemia | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle weakness | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hypotonia | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hepatomegaly | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Elevated CK | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Cardiomegaly | |||
|- | |||
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type I|'''Glycogen storage disease type I''']]<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403 }} </ref><ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref><ref name="pmid21599942">{{cite journal| author=Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A et al.| title=Glucose-6-phosphatase deficiency. | journal=Orphanet J Rare Dis | year= 2011 | volume= 6 | issue= | pages= 27 | pmid=21599942 | doi=10.1186/1750-1172-6-27 | pmc=3118311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21599942 }} </ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/</ref> | |||
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Von Gierke's disease|'''Von Gierke's disease''']] | |||
| style="background:#DCDCDC;" align="center" + |'''GSD type Ia''' | |||
| style="background:#F5F5F5;" align="center" + |[[Glucose-6-phosphatase]] | |||
| style="background:#F5F5F5;" align="center" + |[[G6PC]] [[gene mutation]] | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |17q21 | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | - | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | - | |||
| rowspan="2" style="background:#F5F5F5;" + | | |||
* [[Lactic acidosis]] | |||
* [[Hyperlipidemia]] | |||
* [[Hyperuricemia]] | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |'''GSD type Ib''' | |||
| style="background:#F5F5F5;" align="center" + | [[Microsomal]] [[glucose-6-phosphate]] [[Membrane transport protein|transporter]] | |||
| style="background:#F5F5F5;" align="center" + | [[SLC37A4]] [[gene mutation]] | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |11q23 | |||
|- | |||
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type II|'''Glycogen storage disease type II''']]<ref>Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/</ref><ref name="pmid17915568">{{cite journal| author=Di Rocco M, Buzzi D, Tarò M| title=Glycogen storage disease type II: clinical overview. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 42-4 | pmid=17915568 | doi= | pmc=2949314 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915568 }} </ref><ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883 }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid10931430">{{cite journal| author=Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F| title=Identification of two subtypes of infantile acid maltase deficiency. | journal=J Pediatr | year= 2000 | volume= 137 | issue= 2 | pages= 283-5 | pmid=10931430 | doi=10.1067/mpd.2000.107112 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10931430 }} </ref><ref name="pmid2111708">{{cite journal| author=Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R| title=Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. | journal=DNA Cell Biol | year= 1990 | volume= 9 | issue= 2 | pages= 85-94 | pmid=2111708 | doi=10.1089/dna.1990.9.85 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2111708 }} </ref><ref name="pmid3049072">{{cite journal| author=Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA| title=Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. | journal=EMBO J | year= 1988 | volume= 7 | issue= 6 | pages= 1697-704 | pmid=3049072 | doi= | pmc=457155 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3049072 }} </ref><ref name="pmid2268276">{{cite journal| author=Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA| title=Characterization of the human lysosomal alpha-glucosidase gene. | journal=Biochem J | year= 1990 | volume= 272 | issue= 2 | pages= 493-7 | pmid=2268276 | doi= | pmc=1149727 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2268276 }} </ref><ref name="pmid8786092">{{cite journal| author=Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K| title=Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. | journal=Hum Genet | year= 1996 | volume= 97 | issue= 3 | pages= 404-6 | pmid=8786092 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8786092 }} </ref> | |||
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Pompe disease|'''Pompe disease''']] | |||
| style="background:#DCDCDC;" align="center" + |'''Infantile onset''' | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + |[[Acid alpha-glucosidase]] | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + |GAA gene | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + |17q25 | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" + | | |||
* Elevated [[LDH]] | |||
* Elevated [[liver]] aminotransferases | |||
* Elevated urinary glc4 | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |'''Late onset''' | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | +/- | |||
|- | |||
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type III|'''Glycogen storage disease type III''']]<ref name="pmid8755644">{{cite journal| author=Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT| title=Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. | journal=J Clin Invest | year= 1996 | volume= 98 | issue= 2 | pages= 352-7 | pmid=8755644 | doi=10.1172/JCI118799 | pmc=507437 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8755644 }} </ref><ref name="pmid2295969">{{cite journal| author=Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT| title=Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. | journal=J Pediatr | year= 1990 | volume= 116 | issue= 1 | pages= 95-100 | pmid=2295969 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2295969 }} </ref><ref name="pmid19834502">{{cite journal| author=Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T et al.| title=Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. | journal=J Hum Genet | year= 2009 | volume= 54 | issue= 11 | pages= 681-6 | pmid=19834502 | doi=10.1038/jhg.2009.100 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19834502 }} </ref><ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref><ref>Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/</ref><ref name="pmid12618563">{{cite journal| author=Wolfsdorf JI, Weinstein DA| title=Glycogen storage diseases. | journal=Rev Endocr Metab Disord | year= 2003 | volume= 4 | issue= 1 | pages= 95-102 | pmid=12618563 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12618563 }} </ref> | |||
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Cori disease|'''Cori disease''']] | |||
| style="background:#DCDCDC;" align="center" + |'''GSD type IIIa''' | |||
| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in muscle and liver) | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + |AGL [[gene mutation]] | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + |1p21 | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" + | | |||
* [[Ketosis]] | |||
* [[Hyperlipidemia]] | |||
* Elevated liver aminotransferases | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |'''GSD type IIIb''' | |||
| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in liver only) | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type IV|'''Glycogen storage disease type IV''']]<ref name="pmid15452297">{{cite journal| author=Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA et al.| title=Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). | journal=Neurology | year= 2004 | volume= 63 | issue= 6 | pages= 1053-8 | pmid=15452297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15452297 }} </ref><ref name="pmid17915577">{{cite journal| author=Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S| title=Neuromuscular forms of glycogen branching enzyme deficiency. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 75-8 | pmid=17915577 | doi= | pmc=2949312 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915577 }} </ref><ref name="pmid5229990">{{cite journal| author=Brown BI, Brown DH| title=Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. | journal=Proc Natl Acad Sci U S A | year= 1966 | volume= 56 | issue= 2 | pages= 725-9 | pmid=5229990 | doi= | pmc=224432 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5229990 }} </ref><ref name="pmid8830177">{{cite journal| author=McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P et al.| title=Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. | journal=J Inherit Metab Dis | year= 1996 | volume= 19 | issue= 1 | pages= 51-8 | pmid=8830177 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8830177 }} </ref><ref>Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115333/</ref> | |||
| colspan="2" style="background:#DCDCDC;" align="center" + |[[Andersen's disease|'''Andersen's disease''']] | |||
| style="background:#F5F5F5;" align="center" + |Branching enzyme | |||
| style="background:#F5F5F5;" align="center" + | GBE1 gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |3p12 | |||
| style="background:#F5F5F5;" align="center" + | +/- | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type V|'''Glycogen storage disease type V''']]<ref name="pmid24540673">{{cite journal| author=McARDLE B| title=Myopathy due to a defect in muscle glycogen breakdown. | journal=Clin Sci | year= 1951 | volume= 10 | issue= 1 | pages= 13-35 | pmid=24540673 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24540673 }} </ref><ref name="pmid14442994">{{cite journal| author=SCHMID R, MAHLER R| title=Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. | journal=J Clin Invest | year= 1959 | volume= 38 | issue= | pages= 2044-58 | pmid=14442994 | doi=10.1172/JCI103983 | pmc=441792 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14442994 }} </ref><ref name="pmid16590445">{{cite journal| author=Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K| title=A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE. | journal=Proc Natl Acad Sci U S A | year= 1959 | volume= 45 | issue= 6 | pages= 791-7 | pmid=16590445 | doi= | pmc=222638 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16590445 }} </ref><ref name="pmid13733779">{{cite journal| author=PEARSON CM, RIMER DG, MOMMAERTS WF| title=A metabolic myopathy due to absence of muscle phosphorylase. | journal=Am J Med | year= 1961 | volume= 30 | issue= | pages= 502-17 | pmid=13733779 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13733779 }} </ref><ref name="pmid4502558">{{cite journal| author=Grünfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC| title=Acute renal failure in McArdle's disease. Report of two cases. | journal=N Engl J Med | year= 1972 | volume= 286 | issue= 23 | pages= 1237-41 | pmid=4502558 | doi=10.1056/NEJM197206082862304 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4502558 }} </ref><ref name="pmid3476861">{{cite journal| author=Schmidt B, Servidei S, Gabbai AA, Silva AC, de Sousa Bulle de Oliveira A, DiMauro S| title=McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. | journal=Neurology | year= 1987 | volume= 37 | issue= 9 | pages= 1558-61 | pmid=3476861 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3476861 }} </ref><ref>Martín MA, Lucía A, Arenas J, et al. Glycogen Storage Disease Type V. 2006 Apr 19 [Updated 2014 Jun 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1344/</ref> | |||
| colspan="2" style="background:#DCDCDC;" align="center" + |[[McArdle disease|'''McArdle disease''']] | |||
| style="background:#F5F5F5;" align="center" + |Muscle [[glycogen phosphorylase]] | |||
| style="background:#F5F5F5;" align="center" + |PYGM gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |11q13 | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" + | | |||
* [[Myoglobinuria]], may result in [[renal failure]] | |||
|- | |||
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type VI|'''Glycogen storage disease type VI''']]<ref name="pmid5904467">{{cite journal| author=Wallis PG, Sidbury JB, Harris RC| title=Hepatic phosphorylase defect. Studies on peripheral blood. | journal=Am J Dis Child | year= 1966 | volume= 111 | issue= 3 | pages= 278-82 | pmid=5904467 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5904467 }} </ref><ref name="pmid25266922">{{cite journal| author=Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J et al.| title=The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | journal=Mol Genet Metab | year= 2014 | volume= 113 | issue= 3 | pages= 171-6 | pmid=25266922 | doi=10.1016/j.ymgme.2014.09.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25266922 }} </ref><ref name="pmid9529348">{{cite journal| author=Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW| title=Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. | journal=Am J Hum Genet | year= 1998 | volume= 62 | issue= 4 | pages= 785-91 | pmid=9529348 | doi= | pmc=1377030 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9529348 }} </ref><ref name="pmid9536091">{{cite journal| author=Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG| title=Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. | journal=Hum Mol Genet | year= 1998 | volume= 7 | issue= 5 | pages= 865-70 | pmid=9536091 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9536091 }} </ref><ref>Dagli AI, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23 [Updated 2011 May 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5941/</ref> | |||
| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Hers' disease|'''Hers' disease''']] | |||
| style="background:#DCDCDC;" align="center" + |'''Autosomal''' | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + |Liver [[glycogen phosphorylase]] | |||
| style="background:#F5F5F5;" align="center" + | PYGL gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |14q22 | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | +/- | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | +/- | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | + | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | - | |||
| rowspan="2" style="background:#F5F5F5;" align="center" + | - | |||
| rowspan="2" style="background:#F5F5F5;" + | | |||
* [[Hyperlipidemia]] | |||
* Elevated liver aminotransferases | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |'''X-linked''' | |||
| style="background:#F5F5F5;" align="center" + | PYGL gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]] | |||
| style="background:#F5F5F5;" align="center" + |X | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type VII|'''Glycogen storage disease type VII''']]<ref name="pmid7550225">{{cite journal| author=Raben N, Sherman JB| title=Mutations in muscle phosphofructokinase gene. | journal=Hum Mutat | year= 1995 | volume= 6 | issue= 1 | pages= 1-6 | pmid=7550225 | doi=10.1002/humu.1380060102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7550225 }} </ref><ref name="pmid14339001">{{cite journal| author=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M| title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. | journal=Biochem Biophys Res Commun | year= 1965 | volume= 19 | issue= | pages= 517-23 | pmid=14339001 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14339001 }} </ref><ref name="pmid4228297">{{cite journal| author=Layzer RB, Rowland LP, Ranney HM| title=Muscle phosphofructokinase deficiency. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 5 | pages= 512-23 | pmid=4228297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228297 }} </ref><ref name="pmid4228753">{{cite journal| author=Satoyoshi E, Kowa H| title=A myopathy due to glycolytic abnormality. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 3 | pages= 248-56 | pmid=4228753 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228753 }} </ref><ref name="pmid4258222">{{cite journal| author=Waterbury L, Frenkel EP| title=Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency. | journal=Blood | year= 1972 | volume= 39 | issue= 3 | pages= 415-25 | pmid=4258222 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4258222 }} </ref><ref name="pmid6444532">{{cite journal| author=Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S| title=The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. | journal=Blood | year= 1980 | volume= 55 | issue= 4 | pages= 629-35 | pmid=6444532 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6444532 }} </ref> | |||
| colspan="2" style="background:#DCDCDC;" align="center" + |[[Tarui's disease|'''Tarui's disease''']] | |||
| style="background:#F5F5F5;" align="center" + |Muscle [[phosphofructokinase]] | |||
| style="background:#F5F5F5;" align="center" + |PFKM gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |12q13 | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" + | | |||
* [[Reticulocyte|Reticulocytosis]] | |||
* [[Hyperuricemia]] | |||
* [[Myoglobinuria]] | |||
* [[Hemolytic anemia]] | |||
|- | |||
| colspan="2" rowspan="2" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type IX'''<ref name="pmid17689125">{{cite journal| author=Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P et al.| title=Glycogen storage disease type IX: High variability in clinical phenotype. | journal=Mol Genet Metab | year= 2007 | volume= 92 | issue= 1-2 | pages= 88-99 | pmid=17689125 | doi=10.1016/j.ymgme.2007.06.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17689125 }} </ref><ref name="pmid25266922">{{cite journal| author=Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J et al.| title=The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | journal=Mol Genet Metab | year= 2014 | volume= 113 | issue= 3 | pages= 171-6 | pmid=25266922 | doi=10.1016/j.ymgme.2014.09.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25266922 }} </ref><ref>Goldstein J, Austin S, Kishnani P, et al. Phosphorylase Kinase Deficiency. 2011 May 31. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/</ref> | |||
| style="background:#DCDCDC;" align="center" + |'''GSD type IXa'''<ref name="pmid3859203">{{cite journal| author=Keating JP, Brown BI, White NH, DiMauro S| title=X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation. | journal=Am J Dis Child | year= 1985 | volume= 139 | issue= 6 | pages= 609-13 | pmid=3859203 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3859203 }} </ref><ref name="pmid7959740">{{cite journal| author=Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J et al.| title=Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). | journal=Genomics | year= 1994 | volume= 21 | issue= 3 | pages= 620-5 | pmid=7959740 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7959740 }} </ref><ref name="pmid4518931">{{cite journal| author=Schimke RN, Zakheim RM, Corder RC, Hug G| title=Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. | journal=J Pediatr | year= 1973 | volume= 83 | issue= 6 | pages= 1031-4 | pmid=4518931 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4518931 }} </ref><ref name="pmid2303074">{{cite journal| author=Willems PJ, Gerver WJ, Berger R, Fernandes J| title=The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. | journal=Eur J Pediatr | year= 1990 | volume= 149 | issue= 4 | pages= 268-71 | pmid=2303074 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2303074 }} </ref><ref name="pmid9835437">{{cite journal| author=Hendrickx J, Bosshard NU, Willems P, Gitzelmann R| title=Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. | journal=Eur J Pediatr | year= 1998 | volume= 157 | issue= 11 | pages= 919-23 | pmid=9835437 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9835437 }} </ref> | |||
| style="background:#F5F5F5;" align="center" + |Phosphorylase b kinase (deficiency in liver only) | |||
| style="background:#F5F5F5;" align="center" + |[[PHKA2]] gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]] | |||
| style="background:#F5F5F5;" align="center" + |Xp22 | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" + | | |||
* [[Hyperlipidemia]] | |||
* Elevated liver aminotransferases | |||
* [[Hyperuricemia]] | |||
* Fasting [[ketosis]] | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |'''GSD type IXb'''<ref name="pmid6938920">{{cite journal| author=Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW| title=Glycogenosis due to liver and muscle phosphorylase kinase deficiency. | journal=Pediatr Res | year= 1981 | volume= 15 | issue= 4 Pt 1 | pages= 299-303 | pmid=6938920 | doi=10.1203/00006450-198104000-00002 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6938920 }} </ref><ref name="pmid6422139">{{cite journal| author=Gray RG, Kumar D, Whitfield AE| title=Glycogen phosphorylase b kinase deficiency in three siblings. | journal=J Inherit Metab Dis | year= 1983 | volume= 6 | issue= 3 | pages= 107 | pmid=6422139 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6422139 }} </ref><ref name="pmid9215682">{{cite journal| author=Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS et al.| title=Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). | journal=Hum Mol Genet | year= 1997 | volume= 6 | issue= 7 | pages= 1109-15 | pmid=9215682 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9215682 }} </ref> | |||
| style="background:#F5F5F5;" align="center" + |Phosphorylase b kinase (deficiency in liver and muscle) | |||
| style="background:#F5F5F5;" align="center" + |[[PHKB]] gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |16q12 | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" + | | |||
* [[Hyperlipidemia]] | |||
* Elevated liver aminotransferases | |||
|- | |||
| colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type X'''<ref name="pmid10545043">{{cite journal| author=Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ et al.| title=Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. | journal=Neuromuscul Disord | year= 1999 | volume= 9 | issue= 6-7 | pages= 399-402 | pmid=10545043 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10545043 }} </ref><ref name="pmid8447317">{{cite journal| author=Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S| title=The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. | journal=Am J Hum Genet | year= 1993 | volume= 52 | issue= 3 | pages= 472-7 | pmid=8447317 | doi= | pmc=1682163 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8447317 }} </ref><ref name="pmid2987758">{{cite journal| author=Kissel JT, Beam W, Bresolin N, Gibbons G, DiMauro S, Mendell JR| title=Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. | journal=Neurology | year= 1985 | volume= 35 | issue= 6 | pages= 828-33 | pmid=2987758 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2987758 }} </ref><ref name="pmid6262916">{{cite journal| author=DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R| title=Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. | journal=Science | year= 1981 | volume= 212 | issue= 4500 | pages= 1277-9 | pmid=6262916 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6262916 }} </ref> | |||
| style="background:#F5F5F5;" align="center" + |[[Phosphoglycerate mutase]] | |||
| style="background:#F5F5F5;" align="center" + |[[PGAM2]] gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |7p13 | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" + | | |||
* [[Myoglobinuria]] | |||
* [[Gout]] (tophy) | |||
* Severe [[coronary]] [[arteriosclerosis]] | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XI'''<ref name="pmid3789777">{{cite journal| author=Yoshikuni K, Tagami H, Yamada M, Sudo K, Kanno T| title=Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency. | journal=Arch Dermatol | year= 1986 | volume= 122 | issue= 12 | pages= 1420-4 | pmid=3789777 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3789777 }} </ref><ref name="pmid3383424">{{cite journal| author=Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K| title=Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy. | journal=Clin Chim Acta | year= 1988 | volume= 173 | issue= 1 | pages= 89-98 | pmid=3383424 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3383424 }} </ref><ref name="pmid3092644">{{cite journal| author=Maekawa M, Sudo K, Kanno T| title=Immunochemical studies on lactate dehydrogenase A subunit deficiencies. | journal=Am J Hum Genet | year= 1986 | volume= 39 | issue= 2 | pages= 232-8 | pmid=3092644 | doi= | pmc=1683931 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3092644 }} </ref><ref name="pmid1999544">{{cite journal| author=Takayasu S, Fujiwara S, Waki T| title=Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles. | journal=J Am Acad Dermatol | year= 1991 | volume= 24 | issue= 2 Pt 2 | pages= 339-42 | pmid=1999544 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1999544 }} </ref> | |||
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Lactate dehydrogenase A deficiency''' | |||
| style="background:#F5F5F5;" align="center" + |[[Lactate dehydrogenase A]] | |||
| style="background:#F5F5F5;" align="center" + |LDHA gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |11p15 | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" + | | |||
* Muscle [[stiffness]] | |||
* [[Lactic acidosis]] | |||
* [[Myoglobinuria]] | |||
* Easy [[fatigue]] | |||
|- | |- | ||
| | | style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XII'''<ref name="pmid2825199">{{cite journal| author=Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K| title=Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. | journal=Proc Natl Acad Sci U S A | year= 1987 | volume= 84 | issue= 23 | pages= 8623-7 | pmid=2825199 | doi= | pmc=299598 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2825199 }} </ref><ref name="pmid4788792">{{cite journal| author=Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W| title=Red cell aldolase deficiency and hemolytic anemia: a new syndrome. | journal=Trans Assoc Am Physicians | year= 1973 | volume= 86 | issue= | pages= 154-66 | pmid=4788792 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4788792 }} </ref><ref name="pmid8598869">{{cite journal| author=Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B, Gottschalk U et al.| title=Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. | journal=N Engl J Med | year= 1996 | volume= 334 | issue= 17 | pages= 1100-4 | pmid=8598869 | doi=10.1056/NEJM199604253341705 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8598869 }} </ref><ref name="pmid3688035">{{cite journal| author=Hurst JA, Baraitser M, Winter RM| title=A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency. | journal=Am J Med Genet | year= 1987 | volume= 28 | issue= 4 | pages= 965-70 | pmid=3688035 | doi=10.1002/ajmg.1320280423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3688035 }} </ref> | ||
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Aldolase A deficiency''' | |||
| style="background:#F5F5F5;" align="center" + |[[Aldolase A]] | |||
| style="background:#F5F5F5;" align="center" + |ALDOA gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |16p11 | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" + | | |||
* [[Hemolytic anemia]] | |||
* [[Splenomegaly]] | |||
|- | |- | ||
| | | colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XIII<ref name="pmid11506403">{{cite journal| author=Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S et al.| title=Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. | journal=Ann Neurol | year= 2001 | volume= 50 | issue= 2 | pages= 202-7 | pmid=11506403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11506403 }} </ref>''' | ||
| style="background:#F5F5F5;" align="center" + |Beta-enolase | |||
| style="background:#F5F5F5;" align="center" + | ENO3 gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |17p13 | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
|- | |- | ||
| | | colspan="3" style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XIV'''<ref name="pmid24499211">{{cite journal| author=Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S et al.| title=Multiple phenotypes in phosphoglucomutase 1 deficiency. | journal=N Engl J Med | year= 2014 | volume= 370 | issue= 6 | pages= 533-42 | pmid=24499211 | doi=10.1056/NEJMoa1206605 | pmc=4373661 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24499211 }} </ref><ref name="pmid19625727">{{cite journal| author=Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G et al.| title=Muscle glycogenosis due to phosphoglucomutase 1 deficiency. | journal=N Engl J Med | year= 2009 | volume= 361 | issue= 4 | pages= 425-7 | pmid=19625727 | doi=10.1056/NEJMc0901158 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19625727 }} </ref> | ||
| style="background:#F5F5F5;" align="center" + |[[Phosphoglucomutase]] type 2 | |||
| style="background:#F5F5F5;" align="center" + |[[PGM1]] gene mutation | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |1p31 | |||
| style="background:#F5F5F5;" align="center" + | +/- | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" + | | |||
* Elevated liver aminotransferases | |||
|- | |- | ||
| | | style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type 0'''<ref name="pmid9691087">{{cite journal| author=Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P et al.| title=Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. | journal=J Clin Invest | year= 1998 | volume= 102 | issue= 3 | pages= 507-15 | pmid=9691087 | doi=10.1172/JCI2890 | pmc=508911 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9691087 }} </ref><ref name="pmid12794686">{{cite journal| author=Laberge AM, Mitchell GA, van de Werve G, Lambert M| title=Long-term follow-up of a new case of liver glycogen synthase deficiency. | journal=Am J Med Genet A | year= 2003 | volume= 120A | issue= 1 | pages= 19-22 | pmid=12794686 | doi=10.1002/ajmg.a.20110 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12794686 }} </ref><ref name="pmid8831078">{{cite journal| author=Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M et al.| title=Liver glycogen synthase deficiency: a rarely diagnosed entity. | journal=Eur J Pediatr | year= 1996 | volume= 155 | issue= 7 | pages= 561-7 | pmid=8831078 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8831078 }} </ref><ref name="pmid11483824">{{cite journal| author=Rutledge SL, Atchison J, Bosshard NU, Steinmann B| title=Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. | journal=Pediatrics | year= 2001 | volume= 108 | issue= 2 | pages= 495-7 | pmid=11483824 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11483824 }} </ref> | ||
| colspan="2" style="background:#DCDCDC;" align="center" + |'''Lewis' disease''' | |||
| style="background:#F5F5F5;" align="center" + |Hepatic [[glycogen synthase]] | |||
| style="background:#F5F5F5;" align="center" + |GYS2 gene mutation (liver) | |||
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]] | |||
| style="background:#F5F5F5;" align="center" + |12p12 | |||
| style="background:#F5F5F5;" align="center" + | + | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" align="center" + | - | |||
| style="background:#F5F5F5;" + | | |||
* Fasting [[hypoglycemia]] and [[ketosis]] | |||
* Postprandial [[hyperglycemia]] and [[Lactic acidosis (patient information)|lactic acidosis]] | |||
|} | |} | ||
</small> | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The epidemiology and demographics of the Glycogen storage disease type VII are as follows:<ref name="pmid14718702">{{cite journal |vauthors=Haller RG, Vissing J |title=No spontaneous second wind in muscle phosphofructokinase deficiency |journal=Neurology |volume=62 |issue=1 |pages=82–6 |year=2004 |pmid=14718702 |doi= |url=}}</ref> | The epidemiology and demographics of the Glycogen storage disease type VII are as follows:<ref name="pmid14718702">{{cite journal |vauthors=Haller RG, Vissing J |title=No spontaneous second wind in muscle phosphofructokinase deficiency |journal=Neurology |volume=62 |issue=1 |pages=82–6 |year=2004 |pmid=14718702 |doi= |url=}}</ref><ref name="pmid8659544">{{cite journal| author=Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N| title=Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. | journal=Am J Hum Genet | year= 1996 | volume= 59 | issue= 1 | pages= 59-65 | pmid=8659544 | doi= | pmc=1915105 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8659544 }} </ref><ref name="pmidMCID: PMC1915105">{{cite journal| author=Scrocchi LA, Jones LA| title=Alteration of proto-oncogene c-fos expression in neonatal estrogenized BALB/c female mice & murine cervicovaginal tumor LJ6195. | journal=Endocrinology | year= 1991 | volume= 129 | issue= 4 | pages= 2251-3 | pmid=MCID: PMC1915105 | doi=10.1210/endo-129-4-2251 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1915105 }} </ref> | ||
*[[Glycogen]] [[Glycogen storage disease|storage]] disease type VII is | *[[Glycogen]] [[Glycogen storage disease|storage]] disease type VII is considered a rare condition; however, more than 100 cases have been found in the literature. | ||
*The incidence of | *The incidence of glycogen storage disease type VII is 2.3 children per 100,000 births per year. | ||
*Glycogen storage disease type VII commonly affects children, all patients of reported cases died by age 4 years. | *[[Glycogen storage disease|Glycogen]] storage disease type VII commonly affects children, all [[Patient|patients]] of reported cases died by age 4 years. | ||
*[[Glycogen storage disease|Glycogen]] storage disease type VII usually affects individuals of the | *[[Glycogen storage disease|Glycogen]] storage disease type VII usually affects individuals of the Japanese and Ashkenazi Jewish descent. | ||
*Some disease-causing [[Mutation|mutations]] have been found in the PFK-M gene in Italian, French Canadian, and Swiss patients. | |||
*[[Glycogen storage disease|Glycogen]] storage disease type VII affects men and women equally. | *[[Glycogen storage disease|Glycogen]] storage disease type VII affects men and women equally. | ||
==Risk Factors== | ==Risk Factors== | ||
* The most potent risk factor in the development of glycogen storage disease type VII is a sibling with glycogen storage disease type VII. | |||
The most potent risk factor in the development of | |||
==Screening== | ==Screening== | ||
There is insufficient evidence to recommend routine screening for [ | * There is insufficient evidence to recommend routine screening for Tarui's disease. | ||
* The [[Probands|proband's]] PFK [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members. | |||
== Natural History, Complications, and Prognosis == | |||
'''Complications:''' | |||
Common complications of glycogen storage disease type VII disease include:<ref name="pmid17608317">{{cite journal| author=Al-Hassnan ZN, Al Budhaim M, Al-Owain M, Lach B, Al-Dhalaan H| title=Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. | journal=J Child Neurol | year= 2007 | volume= 22 | issue= 1 | pages= 106-8 | pmid=17608317 | doi=10.1177/0883073807299968 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17608317 }} </ref><ref name="pmid26108272">{{cite journal| author=Wu PL, Yang YN, Tey SL, Yang CH, Yang SN, Lin CS| title=Infantile form of muscle phosphofructokinase deficiency in a premature neonate. | journal=Pediatr Int | year= 2015 | volume= 57 | issue= 4 | pages= 746-9 | pmid=26108272 | doi=10.1111/ped.12616 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26108272 }} </ref> | |||
== | |||
* Extertional [[rhabdomyolysis]] | * Extertional [[rhabdomyolysis]] | ||
* [[Renal insufficiency|Renal failure]] | * [[Renal insufficiency|Renal failure]] | ||
* [[Gout]] | * [[Gout]] | ||
* [[Hyperuricemia]] | * [[Hyperuricemia]] | ||
* Erythrocyte [[hemolysis]] | * [[Red blood cell|Erythrocyte]] [[hemolysis]] | ||
* [[Pneumonia]] | * [[Pneumonia]] | ||
* [[Respiratory failure|Respiratory]] failure | |||
* [[Gallstone disease|Gallstones]] | |||
==Diagnosis== | ==Diagnosis== | ||
===Diagnostic | ===Diagnostic study of choice=== | ||
* Biochemical enzyme activity<ref name="pmid27066546">{{cite journal| author=Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S et al.| title=PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. | journal=Neurol Genet | year= 2015 | volume= 1 | issue= 1 | pages= e7 | pmid=27066546 | doi=10.1212/NXG.0000000000000007 | pmc=4821086 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27066546 }} </ref><ref name="pmid8208408">{{cite journal| author=Argov Z, Barash V, Soffer D, Sherman J, Raben N| title=Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder? | journal=Neurology | year= 1994 | volume= 44 | issue= 6 | pages= 1097-100 | pmid=8208408 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8208408 }} </ref><ref name="pmid7603525">{{cite journal| author=Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P| title=Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue= | pages= S35-8 | pmid=7603525 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603525 }} </ref> | |||
* [[Molecular genetics]] | |||
===History and Symptoms=== | |||
The hallmark of glycogen storage disease type VII is muscle exercise intolerance.<ref name="pmid22995305">{{cite journal| author=Brüser A, Kirchberger J, Schöneberg T| title=Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease. | journal=Biochem Biophys Res Commun | year= 2012 | volume= 427 | issue= 1 | pages= 133-7 | pmid=22995305 | doi=10.1016/j.bbrc.2012.09.024 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22995305 }} </ref> | |||
The | The specific areas of focus when obtaining patient history include: | ||
* Muscle weakness following a high carbohydrate meal | |||
* Muscle [[Physical exercise|exercise]] intolerance | |||
* Slowly progressive limb weakness with or without [[myoglobinuria]] or [[Cramp|cramps]] | |||
'''Most common symptoms''' | |||
The most common symptoms of glycogen storage disease type VII include:<ref name="pmid14339001">{{cite journal| author=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M| title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. | journal=Biochem Biophys Res Commun | year= 1965 | volume= 19 | issue= | pages= 517-23 | pmid=14339001 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14339001 }} </ref><ref name="pmid4228297">{{cite journal| author=Layzer RB, Rowland LP, Ranney HM| title=Muscle phosphofructokinase deficiency. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 5 | pages= 512-23 | pmid=4228297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228297 }} </ref><ref name="pmid2966901">{{cite journal| author=Danon MJ, Servidei S, DiMauro S, Vora S| title=Late-onset muscle phosphofructokinase deficiency. | journal=Neurology | year= 1988 | volume= 38 | issue= 6 | pages= 956-60 | pmid=2966901 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2966901 }} </ref><ref name="pmid7550225">{{cite journal| author=Raben N, Sherman JB| title=Mutations in muscle phosphofructokinase gene. | journal=Hum Mutat | year= 1995 | volume= 6 | issue= 1 | pages= 1-6 | pmid=7550225 | doi=10.1002/humu.1380060102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7550225 }} </ref> | |||
The | |||
=== | |||
* [[Muscle]] [[Cramp|cramps]] | * [[Muscle]] [[Cramp|cramps]] | ||
* [[Muscle]] [[tenderness]] | * [[Muscle]] [[tenderness]] | ||
* Progressive [[muscle | * Progressive [[muscle weakness]] | ||
* [[Hematuria]] | |||
* [[Hypoglycemia]] | |||
* [[Nausea and vomiting|Vomiting]] | |||
Less common symptoms | |||
* [[Cortical blindness|Cortical]] blindness | |||
* [[ | |||
* [[ | |||
* | |||
Less common symptoms | |||
* [ | |||
* [[Red blood cell|Erythrocyte]] [[hemolysis]] | |||
===Physical Examination=== | ===Physical Examination=== | ||
Physical examination of patients with glycogen storage disease type VII is usually remarkable for:<ref name="MusumeciBruno2012">{{cite journal|last1=Musumeci|first1=Olimpia|last2=Bruno|first2=Claudio|last3=Mongini|first3=Tiziana|last4=Rodolico|first4=Carmelo|last5=Aguennouz|first5=M’hammed|last6=Barca|first6=Emanuele|last7=Amati|first7=Angela|last8=Cassandrini|first8=Denise|last9=Serlenga|first9=Luigi|last10=Vita|first10=Giuseppe|last11=Toscano|first11=Antonio|title=Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)|journal=Neuromuscular Disorders|volume=22|issue=4|year=2012|pages=325–330|issn=09608966|doi=10.1016/j.nmd.2011.10.022}}</ref><ref name="pmid2945125">{{cite journal| author=Servidei S, Bonilla E, Diedrich RG, Kornfeld M, Oates JD, Davidson M et al.| title=Fatal infantile form of muscle phosphofructokinase deficiency. | journal=Neurology | year= 1986 | volume= 36 | issue= 11 | pages= 1465-70 | pmid=2945125 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2945125 }} </ref><ref name="pmid1533013">{{cite journal| author=Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S| title=Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. | journal=Muscle Nerve | year= 1992 | volume= 15 | issue= 4 | pages= 455-8 | pmid=1533013 | doi=10.1002/mus.880150406 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1533013 }} </ref> | |||
'''Neuromuscular''' | |||
* | * [[Muscle]] [[atrophy]] | ||
* [[Arthrogryposis]](congenital joint contracture) | |||
'''Cardiovascular''' | |||
* [[Hypertrophic cardiomyopathy]] | |||
* Paroxysmal [[atrial fibrillation]] | |||
'''Ophthalmology''' | |||
* [[Cornea|Corneal]] opacity | |||
* Hypertrophic cardiomyopathy | |||
* Paroxysmal atrial fibrillation | |||
| | |||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
The following laboratory findings are seen in | The following laboratory findings are seen in glycogen storage disease type VII:<ref name="pmid3473284">{{cite journal| author=Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M et al.| title=Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. | journal=N Engl J Med | year= 1987 | volume= 317 | issue= 2 | pages= 75-80 | pmid=3473284 | doi=10.1056/NEJM198707093170203 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3473284 }} </ref><ref name="pmid3861621">{{cite journal| author=Mineo I, Kono N, Shimizu T, Hara N, Yamada Y, Sumi S et al.| title=Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII. | journal=J Clin Invest | year= 1985 | volume= 76 | issue= 2 | pages= 556-60 | pmid=3861621 | doi=10.1172/JCI112006 | pmc=423860 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3861621 }} </ref><ref name="pmid8976117">{{cite journal| author=Yamasaki T, Hamaguchi T, Nakajima H, Matsuzawa Y| title=[Myogenic hyperuricemia]. | journal=Nihon Rinsho | year= 1996 | volume= 54 | issue= 12 | pages= 3343-8 | pmid=8976117 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8976117 }} </ref><ref name="pmid7603532">{{cite journal| author=Mineo I, Tarui S| title=Myogenic hyperuricemia: what can we learn from metabolic myopathies? | journal=Muscle Nerve Suppl | year= 1995 | volume= 3 | issue= | pages= S75-81 | pmid=7603532 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7603532 }} </ref> | ||
'''More common findings''' | '''More common findings''' | ||
Line 218: | Line 429: | ||
* [[Reticulocyte|Reticulocytosis]] | * [[Reticulocyte|Reticulocytosis]] | ||
* [[Hyperuricemia]] | * [[Hyperuricemia]] | ||
* [[Myoglobinuria]] | |||
'''Less common findings''' | '''Less common findings''' | ||
* [[Hemolytic anemia]] | * [[Hemolytic anemia]] | ||
* Mild [[Jaundice|hyperbilirubinemia]] | * Mild [[Jaundice|hyperbilirubinemia]] | ||
'''Laboratory findings seen after [[Physical exercise|exercise]]''' | |||
High concentrations of: | High concentrations of: | ||
* [[Ammonia]] | * [[Ammonia]] | ||
* [[Inosine]] | * [[Inosine]] | ||
* [[Hypoxanthine]] | * [[Hypoxanthine]] | ||
===Electrocardiogram=== | ===Electrocardiogram=== | ||
There are no ECG findings associated with | There are no ECG findings associated with glycogen storage disease type VII. | ||
===X-ray=== | ===X-ray=== | ||
There are no x-ray findings associated with | There are no x-ray findings associated with glycogen storage disease type VII. | ||
===Ultrasound=== | |||
Ultrasound abdomen may be helpful in the diagnosis of [[hepatomegaly]]. | |||
===CT scan=== | ===CT scan=== | ||
There are no CT scan findings associated with | There are no CT scan findings associated with glycogen storage disease type VII. | ||
===MRI=== | ===MRI=== | ||
There are no MRI findings associated with | There are no MRI findings associated with glycogen storage disease type VII. | ||
===Other Imaging Findings=== | ===Other Imaging Findings=== | ||
There are no other imaging findings associated with | There are no other imaging findings associated with glycogen storage disease type VII. | ||
===Other Diagnostic Studies=== | ===Other Diagnostic Studies=== | ||
* [[Muscle]] [[enzyme]] assay and [[DNA]] testing are helpful in the diagnosis of [[Glycogen storage disease|glycogen]] storage disease type VII. | |||
[ | |||
==Treatment== | ==Treatment== | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
There is no medical treatment for | * There is no medical treatment for glycogen storage disease type VII. | ||
* The mainstay of therapy is supportive care. | |||
===Surgery=== | ===Surgery=== | ||
Surgical intervention is not recommended for the management of | * Surgical intervention is not recommended for the management of glycogen storage disease type VII. | ||
===Primary Prevention=== | ===Primary Prevention=== | ||
* '''Genetic counseling:''' [[Genetic counseling]] should be offered to all parents with a child with glycogen storage disease type VII and to all adults with glycogen storage disease type VII. | |||
* '''Prenatal diagnosis:''' The preferred method for [[prenatal diagnosis]] is molecular testing when PFK [[mutation]] is known. Mutation analysis is performed either on cultured [[Chorionic villus sampling|chorionic villus]] samples or [[Amniocyte|amniocytes]]. | |||
* '''Screening:''' The [[Probands|proband's]] PFK [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members. | |||
===Secondary Prevention=== | ===Secondary Prevention=== | ||
Effective measures for the secondary prevention of | Effective measures for the secondary prevention of glycogen storage disease type VII include:<ref name="SwobodaSpecht1997">{{cite journal|last1=Swoboda|first1=Kathryn J.|last2=Specht|first2=Linda|last3=Jones|first3=H.Royden|last4=Shapiro|first4=Frederic|last5=DiMauro|first5=Salvatore|last6=Korson|first6=Mark|title=Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet|journal=The Journal of Pediatrics|volume=131|issue=6|year=1997|pages=932–934|issn=00223476|doi=10.1016/S0022-3476(97)70048-9}}</ref><ref name="pmid10916683">{{cite journal| author=Fujii H, Miwa S| title=Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. | journal=Baillieres Best Pract Res Clin Haematol | year= 2000 | volume= 13 | issue= 1 | pages= 141-8 | pmid=10916683 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10916683 }} </ref> | ||
* Avoidance of | |||
* High carbohydrate meal | * Avoidance of strenuous [[Physical exercise|exercise]] | ||
* Ketogenic diet | * High carbohydrate meal: Consumption of high carbohydrate meal should be avoided before exercise. | ||
* [[Ketogenic diet|Ketogenic]] diet | |||
==References== | ==References== | ||
Line 345: | Line 486: | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
[[Category:Endocrinology]] | |||
[[Category:Hepatology]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] |
Latest revision as of 14:23, 29 March 2018
For the main page on glycogen storage disease, please click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Feham Tariq, MD [2], Anmol Pitliya, M.B.B.S. M.D.[3]
Synonyms and keywords:Tarui's disease; glycogen storage disease type 7; GSD type VII; phosphofructokinase deficiency; muscle phosphofructokinase deficiency
Overview
Glycogen storage disease type VII (Tarui's disease) is a rare autosomal recessive disease, clinically characterized by early exercise intolerance which manifests during childhood, with muscle pain and myoglobinuria after exercise or strenuous exercise. In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance. GSD type VII is caused by mutation of phosphofructokinase gene located at 12q13 for the M (muscle isoform) that results in a deficiency of the phosphofructokinase enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.
Historical Perspective
The historical perspective of the glycogen storage disease type VII is as follows:[1][2][3][4][5][6][7]
- In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance.
- In 1967, Layer et al suggested autosomal recessive inheritence of the disease by detecting the disease in a 18 year old male.
- Also in 1967, Satoyoshi and Kowa postulated the role of a inhibitor in the development of disease.
- In 1980, Vora et al studied a patient with myopathy and hemolysis which were assosciated with PFK deficiency.
- In 1983 Tani et al studied two Japanese with congenital non-spherocytic hemolytic anemia and mild myopathy, having erythrocyte PFK deficiency.
Classification
There is no established classification of glycogen storage disease type VII.
Pathophysiology
Pathogenesis
- Mutations in the phosphofructokinase (PFKM) gene cause glycogen storage disease type VII.[8]
- PFKM gene signals to make the PFKM subunit of an enzyme called phosphofructokinase, which plays a key role in the metabolism of the glycogen.
- The phosphofructokinase enzyme is made up of four subunits and is found in a variety of tissues.
- Various tissues have different combinations of these four subunits of phosphofructokinase enzyme.
- In skeletal muscles where the main source of energy is stored glycogen, the phosphofructokinase enzyme is solely composed of the PFKM subunits.
- To maintain normal blood sugar levels between meals or during exercise, glycogen is metabolized rapidly into the when energy is needed.
- Phosphofructokinase is involved in the above-mentioned chain of events that metabolizes glycogen to provide energy to muscle cells.
- The mutations of the PFKM gene results in non-functional or dysfunctional PFKM subunits.
- As a result, no functional phosphofructokinase is formed in skeletal muscles, and glycogen cannot be metabolized completely resulting in the accumulation of the partially metabolized glycogen in the skeletal muscle cells.
- If these skeletal muscles are put to a moderate strain such as exercise, cramping ensues as these muscles do not have access to glycogen as an energy source.
- In other tissues, other subunits that make up the phosphofructokinase enzyme likely compensate for the lack of PFKM subunits, and the enzyme is able to retain some function, this compensation may help explain why other tissues are not affected by PFKM gene mutations.
Metabolic Pathway
![](/images/6/62/GSD_TYPE_VII.png)
Genetics
- Glycogen storage disease type VII is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[9][10][11]
- Disease manifests when there is a mutation in the gene for M (muscle isoform), L (liver isoform) and P (platelet isoform) of phosphofructokinase enzyme.[12][13][14][15][16]
- A variety of mutations can occur, one of which is alteration of splice site leading to exon skipping and single nucleotide mutation leading to 95% of causes of glycogen storage disease type VII.[17][18][19][14]
Microscopic findings
The following changes are seen in the muscle on muscle biopsy:[20][3][21]
- Muscle fiber necrosis
- Increased variation in the fibre size
- Ring fibers
- Endomyosial fibrosis
- Moderate excess of subsarcolemmal glycogen accumulation on periodic acid-Schiff (PAS) staining
- In 10% of muscle fibers, diastase-resistant, long filamentous inclusions are seen
- Iodine absorption spectra of both the inclusions and a diastase-resistant fraction of isolated glycogen resembled amylopectin
- The abnormal polysaccharide in PFK deficiency may be related to greatly elevated concentration of muscle glucose-6-phosphate, an activator of the chain-elongating enzyme glycogen synthase
Causes
- Glycogen storage disease type VII is inherited as an autosomal recessive genetic disorder.
- GSD type VII is caused by mutation of phosphofructokinase gene located at 12q13 for the M (muscle isoform) that results in a deficiency of the phosphofructokinase enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.[22]
- This is the rate-limiting step in the metabolism of the glucose into available energy, if the phosphofructokinase is deficient, energy is not available to muscles during heavy exercise and hence pain and cramps occur in the muscle.
Differentiating Glycogen Storage Disease Type VII from Other Diseases
Differentiating Glycogen Storage Diseases | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Glycogen storage disease | Enzyme deficiency | Genetics | History and symptoms | Physical examination | Laboratory findings | Imaging | Other features | |||||||
Gene mutation | Inheritance | Chromosome | Hypoglycemia | Muscle weakness | Hypotonia | Hepatomegaly | Elevated CK | Cardiomegaly | ||||||
Glycogen storage disease type I[23][24][25][26][27][28] | Von Gierke's disease | GSD type Ia | Glucose-6-phosphatase | G6PC gene mutation | Autosomal recessive | 17q21 | + | + | + | + | - | - | ||
GSD type Ib | Microsomal glucose-6-phosphate transporter | SLC37A4 gene mutation | Autosomal recessive | 11q23 | ||||||||||
Glycogen storage disease type II[29][30][31][32][33][34][35][36][37] | Pompe disease | Infantile onset | Acid alpha-glucosidase | GAA gene | Autosomal recessive | 17q25 | - | + | + | + | + | + | ||
Late onset | Autosomal recessive | - | + | + | + | + | +/- | |||||||
Glycogen storage disease type III[38][39][40][41][42][43] | Cori disease | GSD type IIIa | Debranching enzyme (deficiency in muscle and liver) | AGL gene mutation | Autosomal recessive | 1p21 | + | + | + | + | + | + |
| |
GSD type IIIb | Debranching enzyme (deficiency in liver only) | Autosomal recessive | ||||||||||||
Glycogen storage disease type IV[44][45][46][47][48] | Andersen's disease | Branching enzyme | GBE1 gene mutation | Autosomal recessive | 3p12 | +/- | + | + | + | + | + | - | ||
Glycogen storage disease type V[49][50][51][52][53][54][55] | McArdle disease | Muscle glycogen phosphorylase | PYGM gene mutation | Autosomal recessive | 11q13 | - | + | - | - | + | - |
| ||
Glycogen storage disease type VI[56][57][58][59][60] | Hers' disease | Autosomal | Liver glycogen phosphorylase | PYGL gene mutation | Autosomal recessive | 14q22 | +/- | + | +/- | + | - | - |
| |
X-linked | PYGL gene mutation | X-linked recessive | X | |||||||||||
Glycogen storage disease type VII[14][1][61][5][62][6] | Tarui's disease | Muscle phosphofructokinase | PFKM gene mutation | Autosomal recessive | 12q13 | + | + | - | - | + | + | |||
Glycogen storage disease type IX[63][57][64] | GSD type IXa[65][66][67][68][69] | Phosphorylase b kinase (deficiency in liver only) | PHKA2 gene mutation | X-linked recessive | Xp22 | + | - | - | + | - | - |
| ||
GSD type IXb[70][71][72] | Phosphorylase b kinase (deficiency in liver and muscle) | PHKB gene mutation | Autosomal recessive | 16q12 | + | - | - | + | - | - |
| |||
Glycogen storage disease type X[73][74][75][76] | Phosphoglycerate mutase | PGAM2 gene mutation | Autosomal recessive | 7p13 | - | - | - | - | + | - |
| |||
Glycogen storage disease type XI[77][78][79][80] | Lactate dehydrogenase A deficiency | Lactate dehydrogenase A | LDHA gene mutation | Autosomal recessive | 11p15 | - | - | - | - | + | - |
| ||
Glycogen storage disease type XII[81][82][83][84] | Aldolase A deficiency | Aldolase A | ALDOA gene mutation | Autosomal recessive | 16p11 | - | + | - | + | - | - | |||
Glycogen storage disease type XIII[85] | Beta-enolase | ENO3 gene mutation | Autosomal recessive | 17p13 | - | + | - | - | + | - | - | |||
Glycogen storage disease type XIV[86][87] | Phosphoglucomutase type 2 | PGM1 gene mutation | Autosomal recessive | 1p31 | +/- | + | - | - | + | - |
| |||
Glycogen storage disease type 0[88][89][90][91] | Lewis' disease | Hepatic glycogen synthase | GYS2 gene mutation (liver) | Autosomal recessive | 12p12 | + | - | - | - | - | - |
|
Epidemiology and Demographics
The epidemiology and demographics of the Glycogen storage disease type VII are as follows:[92][15][93]
- Glycogen storage disease type VII is considered a rare condition; however, more than 100 cases have been found in the literature.
- The incidence of glycogen storage disease type VII is 2.3 children per 100,000 births per year.
- Glycogen storage disease type VII commonly affects children, all patients of reported cases died by age 4 years.
- Glycogen storage disease type VII usually affects individuals of the Japanese and Ashkenazi Jewish descent.
- Some disease-causing mutations have been found in the PFK-M gene in Italian, French Canadian, and Swiss patients.
- Glycogen storage disease type VII affects men and women equally.
Risk Factors
- The most potent risk factor in the development of glycogen storage disease type VII is a sibling with glycogen storage disease type VII.
Screening
- There is insufficient evidence to recommend routine screening for Tarui's disease.
- The proband's PFK mutations should be determined for diagnosis and direct further testing for family members.
Natural History, Complications, and Prognosis
Complications:
Common complications of glycogen storage disease type VII disease include:[94][95]
- Extertional rhabdomyolysis
- Renal failure
- Gout
- Hyperuricemia
- Erythrocyte hemolysis
- Pneumonia
- Respiratory failure
- Gallstones
Diagnosis
Diagnostic study of choice
- Biochemical enzyme activity[96][97][17]
- Molecular genetics
History and Symptoms
The hallmark of glycogen storage disease type VII is muscle exercise intolerance.[98]
The specific areas of focus when obtaining patient history include:
- Muscle weakness following a high carbohydrate meal
- Muscle exercise intolerance
- Slowly progressive limb weakness with or without myoglobinuria or cramps
Most common symptoms
The most common symptoms of glycogen storage disease type VII include:[1][61][99][14]
- Muscle cramps
- Muscle tenderness
- Progressive muscle weakness
- Hematuria
- Hypoglycemia
- Vomiting
Less common symptoms
- Cortical blindness
Physical Examination
Physical examination of patients with glycogen storage disease type VII is usually remarkable for:[100][101][102]
Neuromuscular
- Muscle atrophy
- Arthrogryposis(congenital joint contracture)
Cardiovascular
- Hypertrophic cardiomyopathy
- Paroxysmal atrial fibrillation
Ophthalmology
- Corneal opacity
Laboratory Findings
The following laboratory findings are seen in glycogen storage disease type VII:[103][104][105][106]
More common findings
- Elevated serum creatine kinase
- Reduced red blood cell phosphofructokinase activity.
- Reticulocytosis
- Hyperuricemia
- Myoglobinuria
Less common findings
Laboratory findings seen after exercise
High concentrations of:
Electrocardiogram
There are no ECG findings associated with glycogen storage disease type VII.
X-ray
There are no x-ray findings associated with glycogen storage disease type VII.
Ultrasound
Ultrasound abdomen may be helpful in the diagnosis of hepatomegaly.
CT scan
There are no CT scan findings associated with glycogen storage disease type VII.
MRI
There are no MRI findings associated with glycogen storage disease type VII.
Other Imaging Findings
There are no other imaging findings associated with glycogen storage disease type VII.
Other Diagnostic Studies
- Muscle enzyme assay and DNA testing are helpful in the diagnosis of glycogen storage disease type VII.
Treatment
Medical Therapy
- There is no medical treatment for glycogen storage disease type VII.
- The mainstay of therapy is supportive care.
Surgery
- Surgical intervention is not recommended for the management of glycogen storage disease type VII.
Primary Prevention
- Genetic counseling: Genetic counseling should be offered to all parents with a child with glycogen storage disease type VII and to all adults with glycogen storage disease type VII.
- Prenatal diagnosis: The preferred method for prenatal diagnosis is molecular testing when PFK mutation is known. Mutation analysis is performed either on cultured chorionic villus samples or amniocytes.
- Screening: The proband's PFK mutations should be determined for diagnosis and direct further testing for family members.
Secondary Prevention
Effective measures for the secondary prevention of glycogen storage disease type VII include:[107][108]
- Avoidance of strenuous exercise
- High carbohydrate meal: Consumption of high carbohydrate meal should be avoided before exercise.
- Ketogenic diet
References
- ↑ 1.0 1.1 1.2 TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M (1965). "PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS". Biochem. Biophys. Res. Commun. 19: 517–23. PMID 14339001.
- ↑ Toscano A, Musumeci O (2007). "Tarui disease and distal glycogenoses: clinical and genetic update". Acta Myol. 26 (2): 105–7. PMC 2949577. PMID 18421897.
- ↑ 3.0 3.1 Lin HC, Young C, Wang PJ, Shen YZ (1999). "Muscle phosphofructokinase deficiency (Tarui's disease): report of a case". J Formos Med Assoc. 98 (3): 205–8. PMID 10365541.
- ↑ Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr Mol Med. 2 (2): 197–212. PMID 11949936.
- ↑ 5.0 5.1 Satoyoshi E, Kowa H (1967). "A myopathy due to glycolytic abnormality". Arch Neurol. 17 (3): 248–56. PMID 4228753.
- ↑ 6.0 6.1 Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S (1980). "The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy". Blood. 55 (4): 629–35. PMID 6444532.
- ↑ Tani K, Fujii H, Takegawa S, Miwa S, Koyama W, Kanayama M; et al. (1983). "Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan". Am J Hematol. 14 (2): 165–74. PMID 6220601.
- ↑ Nakajima H, Hamaguchi T, Yamasaki T, Tarui S (1995). "Phosphofructokinase deficiency: recent advances in molecular biology". Muscle Nerve Suppl. 3: S28–34. PMID 7603524.
- ↑ Howard, Timothy D.; Akots, Gita; Bowden, Donald W. (1996). "Physical and Genetic Mapping of the Muscle Phosphofructokinase Gene (PFKM): Reassignment to Human Chromosome 12q". Genomics. 34 (1): 122–127. doi:10.1006/geno.1996.0250. ISSN 0888-7543.
- ↑ Vestergaard H (1999). "Studies of gene expression and activity of hexokinase, phosphofructokinase and glycogen synthase in human skeletal muscle in states of altered insulin-stimulated glucose metabolism". Dan Med Bull. 46 (1): 13–34. PMID 10081651.
- ↑ Inal Gultekin, G.; Raj, K.; Lehman, S.; Hillström, A.; Giger, U. (2012). "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog". Molecular and Cellular Probes. 26 (6): 243–247. doi:10.1016/j.mcp.2012.02.004. ISSN 0890-8508.
- ↑ Van Keuren M, Drabkin H, Hart I, Harker D, Patterson D, Vora S (1986). "Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody". Hum Genet. 74 (1): 34–40. PMID 2944814.
- ↑ Vora S, Miranda AF, Hernandez E, Francke U (1983). "Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes". Hum Genet. 63 (4): 374–9. PMID 6222962.
- ↑ 14.0 14.1 14.2 14.3 Raben N, Sherman JB (1995). "Mutations in muscle phosphofructokinase gene". Hum Mutat. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225.
- ↑ 15.0 15.1 Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N (1996). "Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions". Am J Hum Genet. 59 (1): 59–65. PMC 1915105. PMID 8659544.
- ↑ Vora S (1983). "Isozymes of human phosphofructokinase: biochemical and genetic aspects". Isozymes Curr Top Biol Med Res. 11: 3–23. PMID 6227585.
- ↑ 17.0 17.1 Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P (1995). "Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease)". Muscle Nerve Suppl. 3: S35–8. PMID 7603525.
- ↑ Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM; et al. (1994). "Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency". Am J Hum Genet. 55 (2): 305–13. PMC 1918380. PMID 8037209.
- ↑ Dunaway GA (1983). "A review of animal phosphofructokinase isozymes with an emphasis on their physiological role". Mol Cell Biochem. 52 (1): 75–91. PMID 6306441.
- ↑ Bonilla E, Schotland DL (1970). "Histochemical diagnosis of muscle phosphofructokinase deficiency". Arch Neurol. 22 (1): 8–12. PMID 4243256.
- ↑ Hays AP, Hallett M, Delfs J, Morris J, Sotrel A, Shevchuk MM; et al. (1981). "Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy". Neurology. 31 (9): 1077–86. PMID 6943439.
- ↑ Howard TD, Akots G, Bowden DW (1996). "Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q". Genomics. 34 (1): 122–7. doi:10.1006/geno.1996.0250. PMID 8661033.
- ↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A; et al. (2011). "Glucose-6-phosphatase deficiency". Orphanet J Rare Dis. 6: 27. doi:10.1186/1750-1172-6-27. PMC 3118311. PMID 21599942.
- ↑ Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002). "Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)". Eur. J. Pediatr. 161 Suppl 1: S20–34. doi:10.1007/s00431-002-0999-4. PMID 12373567.
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
- ↑ Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/
- ↑ Di Rocco M, Buzzi D, Tarò M (2007). "Glycogen storage disease type II: clinical overview". Acta Myol. 26 (1): 42–4. PMC 2949314. PMID 17915568.
- ↑ Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; et al. (2006). "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease". J Pediatr. 148 (5): 671–676. doi:10.1016/j.jpeds.2005.11.033. PMID 16737883.
- ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
- ↑ Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F (2000). "Identification of two subtypes of infantile acid maltase deficiency". J Pediatr. 137 (2): 283–5. doi:10.1067/mpd.2000.107112. PMID 10931430.
- ↑ Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R (1990). "Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences". DNA Cell Biol. 9 (2): 85–94. doi:10.1089/dna.1990.9.85. PMID 2111708.
- ↑ Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA (1988). "Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex". EMBO J. 7 (6): 1697–704. PMC 457155. PMID 3049072.
- ↑ Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA (1990). "Characterization of the human lysosomal alpha-glucosidase gene". Biochem J. 272 (2): 493–7. PMC 1149727. PMID 2268276.
- ↑ Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K (1996). "Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization". Hum Genet. 97 (3): 404–6. PMID 8786092.
- ↑ Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT (1996). "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle". J Clin Invest. 98 (2): 352–7. doi:10.1172/JCI118799. PMC 507437. PMID 8755644.
- ↑ Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT (1990). "Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III". J Pediatr. 116 (1): 95–100. PMID 2295969.
- ↑ Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T; et al. (2009). "Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations". J Hum Genet. 54 (11): 681–6. doi:10.1038/jhg.2009.100. PMID 19834502.
- ↑ Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.
- ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/
- ↑ Wolfsdorf JI, Weinstein DA (2003). "Glycogen storage diseases". Rev Endocr Metab Disord. 4 (1): 95–102. PMID 12618563.
- ↑ Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA; et al. (2004). "Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)". Neurology. 63 (6): 1053–8. PMID 15452297.
- ↑ Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S (2007). "Neuromuscular forms of glycogen branching enzyme deficiency". Acta Myol. 26 (1): 75–8. PMC 2949312. PMID 17915577.
- ↑ Brown BI, Brown DH (1966). "Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis". Proc Natl Acad Sci U S A. 56 (2): 725–9. PMC 224432. PMID 5229990.
- ↑ McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P; et al. (1996). "Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease". J Inherit Metab Dis. 19 (1): 51–8. PMID 8830177.
- ↑ Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115333/
- ↑ McARDLE B (1951). "Myopathy due to a defect in muscle glycogen breakdown". Clin Sci. 10 (1): 13–35. PMID 24540673.
- ↑ SCHMID R, MAHLER R (1959). "Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle". J Clin Invest. 38: 2044–58. doi:10.1172/JCI103983. PMC 441792. PMID 14442994.
- ↑ Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K (1959). "A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE". Proc Natl Acad Sci U S A. 45 (6): 791–7. PMC 222638. PMID 16590445.
- ↑ PEARSON CM, RIMER DG, MOMMAERTS WF (1961). "A metabolic myopathy due to absence of muscle phosphorylase". Am J Med. 30: 502–17. PMID 13733779.
- ↑ Grünfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC (1972). "Acute renal failure in McArdle's disease. Report of two cases". N Engl J Med. 286 (23): 1237–41. doi:10.1056/NEJM197206082862304. PMID 4502558.
- ↑ Schmidt B, Servidei S, Gabbai AA, Silva AC, de Sousa Bulle de Oliveira A, DiMauro S (1987). "McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote". Neurology. 37 (9): 1558–61. PMID 3476861.
- ↑ Martín MA, Lucía A, Arenas J, et al. Glycogen Storage Disease Type V. 2006 Apr 19 [Updated 2014 Jun 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1344/
- ↑ Wallis PG, Sidbury JB, Harris RC (1966). "Hepatic phosphorylase defect. Studies on peripheral blood". Am J Dis Child. 111 (3): 278–82. PMID 5904467.
- ↑ 57.0 57.1 Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J; et al. (2014). "The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada". Mol Genet Metab. 113 (3): 171–6. doi:10.1016/j.ymgme.2014.09.005. PMID 25266922.
- ↑ Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW (1998). "Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI". Am J Hum Genet. 62 (4): 785–91. PMC 1377030. PMID 9529348.
- ↑ Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG (1998). "Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI". Hum Mol Genet. 7 (5): 865–70. PMID 9536091.
- ↑ Dagli AI, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23 [Updated 2011 May 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5941/
- ↑ 61.0 61.1 Layzer RB, Rowland LP, Ranney HM (1967). "Muscle phosphofructokinase deficiency". Arch Neurol. 17 (5): 512–23. PMID 4228297.
- ↑ Waterbury L, Frenkel EP (1972). "Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency". Blood. 39 (3): 415–25. PMID 4258222.
- ↑ Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P; et al. (2007). "Glycogen storage disease type IX: High variability in clinical phenotype". Mol Genet Metab. 92 (1–2): 88–99. doi:10.1016/j.ymgme.2007.06.007. PMID 17689125.
- ↑ Goldstein J, Austin S, Kishnani P, et al. Phosphorylase Kinase Deficiency. 2011 May 31. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/
- ↑ Keating JP, Brown BI, White NH, DiMauro S (1985). "X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation". Am J Dis Child. 139 (6): 609–13. PMID 3859203.
- ↑ Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J; et al. (1994). "Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2)". Genomics. 21 (3): 620–5. PMID 7959740.
- ↑ Schimke RN, Zakheim RM, Corder RC, Hug G (1973). "Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency". J Pediatr. 83 (6): 1031–4. PMID 4518931.
- ↑ Willems PJ, Gerver WJ, Berger R, Fernandes J (1990). "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients". Eur J Pediatr. 149 (4): 268–71. PMID 2303074.
- ↑ Hendrickx J, Bosshard NU, Willems P, Gitzelmann R (1998). "Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years". Eur J Pediatr. 157 (11): 919–23. PMID 9835437.
- ↑ Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW (1981). "Glycogenosis due to liver and muscle phosphorylase kinase deficiency". Pediatr Res. 15 (4 Pt 1): 299–303. doi:10.1203/00006450-198104000-00002. PMID 6938920.
- ↑ Gray RG, Kumar D, Whitfield AE (1983). "Glycogen phosphorylase b kinase deficiency in three siblings". J Inherit Metab Dis. 6 (3): 107. PMID 6422139.
- ↑ Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS; et al. (1997). "Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)". Hum Mol Genet. 6 (7): 1109–15. PMID 9215682.
- ↑ Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ; et al. (1999). "Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene". Neuromuscul Disord. 9 (6–7): 399–402. PMID 10545043.
- ↑ Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S (1993). "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency". Am J Hum Genet. 52 (3): 472–7. PMC 1682163. PMID 8447317.
- ↑ Kissel JT, Beam W, Bresolin N, Gibbons G, DiMauro S, Mendell JR (1985). "Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test". Neurology. 35 (6): 828–33. PMID 2987758.
- ↑ DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R (1981). "Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy". Science. 212 (4500): 1277–9. PMID 6262916.
- ↑ Yoshikuni K, Tagami H, Yamada M, Sudo K, Kanno T (1986). "Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency". Arch Dermatol. 122 (12): 1420–4. PMID 3789777.
- ↑ Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K (1988). "Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy". Clin Chim Acta. 173 (1): 89–98. PMID 3383424.
- ↑ Maekawa M, Sudo K, Kanno T (1986). "Immunochemical studies on lactate dehydrogenase A subunit deficiencies". Am J Hum Genet. 39 (2): 232–8. PMC 1683931. PMID 3092644.
- ↑ Takayasu S, Fujiwara S, Waki T (1991). "Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles". J Am Acad Dermatol. 24 (2 Pt 2): 339–42. PMID 1999544.
- ↑ Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K (1987). "Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation". Proc Natl Acad Sci U S A. 84 (23): 8623–7. PMC 299598. PMID 2825199.
- ↑ Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W (1973). "Red cell aldolase deficiency and hemolytic anemia: a new syndrome". Trans Assoc Am Physicians. 86: 154–66. PMID 4788792.
- ↑ Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B, Gottschalk U; et al. (1996). "Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A." N Engl J Med. 334 (17): 1100–4. doi:10.1056/NEJM199604253341705. PMID 8598869.
- ↑ Hurst JA, Baraitser M, Winter RM (1987). "A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency". Am J Med Genet. 28 (4): 965–70. doi:10.1002/ajmg.1320280423. PMID 3688035.
- ↑ Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S; et al. (2001). "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis". Ann Neurol. 50 (2): 202–7. PMID 11506403.
- ↑ Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S; et al. (2014). "Multiple phenotypes in phosphoglucomutase 1 deficiency". N Engl J Med. 370 (6): 533–42. doi:10.1056/NEJMoa1206605. PMC 4373661. PMID 24499211.
- ↑ Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G; et al. (2009). "Muscle glycogenosis due to phosphoglucomutase 1 deficiency". N Engl J Med. 361 (4): 425–7. doi:10.1056/NEJMc0901158. PMID 19625727.
- ↑ Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P; et al. (1998). "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". J Clin Invest. 102 (3): 507–15. doi:10.1172/JCI2890. PMC 508911. PMID 9691087.
- ↑ Laberge AM, Mitchell GA, van de Werve G, Lambert M (2003). "Long-term follow-up of a new case of liver glycogen synthase deficiency". Am J Med Genet A. 120A (1): 19–22. doi:10.1002/ajmg.a.20110. PMID 12794686.
- ↑ Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M; et al. (1996). "Liver glycogen synthase deficiency: a rarely diagnosed entity". Eur J Pediatr. 155 (7): 561–7. PMID 8831078.
- ↑ Rutledge SL, Atchison J, Bosshard NU, Steinmann B (2001). "Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia". Pediatrics. 108 (2): 495–7. PMID 11483824.
- ↑ Haller RG, Vissing J (2004). "No spontaneous second wind in muscle phosphofructokinase deficiency". Neurology. 62 (1): 82–6. PMID 14718702.
- ↑ Scrocchi LA, Jones LA (1991). "Alteration of proto-oncogene c-fos expression in neonatal estrogenized BALB/c female mice & murine cervicovaginal tumor LJ6195". Endocrinology. 129 (4): 2251–3. doi:10.1210/endo-129-4-2251. PMID PMC1915105 MCID: PMC1915105 Check
|pmid=
value (help). - ↑ Al-Hassnan ZN, Al Budhaim M, Al-Owain M, Lach B, Al-Dhalaan H (2007). "Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course". J Child Neurol. 22 (1): 106–8. doi:10.1177/0883073807299968. PMID 17608317.
- ↑ Wu PL, Yang YN, Tey SL, Yang CH, Yang SN, Lin CS (2015). "Infantile form of muscle phosphofructokinase deficiency in a premature neonate". Pediatr Int. 57 (4): 746–9. doi:10.1111/ped.12616. PMID 26108272.
- ↑ Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S; et al. (2015). "PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry". Neurol Genet. 1 (1): e7. doi:10.1212/NXG.0000000000000007. PMC 4821086. PMID 27066546.
- ↑ Argov Z, Barash V, Soffer D, Sherman J, Raben N (1994). "Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?". Neurology. 44 (6): 1097–100. PMID 8208408.
- ↑ Brüser A, Kirchberger J, Schöneberg T (2012). "Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease". Biochem Biophys Res Commun. 427 (1): 133–7. doi:10.1016/j.bbrc.2012.09.024. PMID 22995305.
- ↑ Danon MJ, Servidei S, DiMauro S, Vora S (1988). "Late-onset muscle phosphofructokinase deficiency". Neurology. 38 (6): 956–60. PMID 2966901.
- ↑ Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M’hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio (2012). "Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)". Neuromuscular Disorders. 22 (4): 325–330. doi:10.1016/j.nmd.2011.10.022. ISSN 0960-8966.
- ↑ Servidei S, Bonilla E, Diedrich RG, Kornfeld M, Oates JD, Davidson M; et al. (1986). "Fatal infantile form of muscle phosphofructokinase deficiency". Neurology. 36 (11): 1465–70. PMID 2945125.
- ↑ Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S (1992). "Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency". Muscle Nerve. 15 (4): 455–8. doi:10.1002/mus.880150406. PMID 1533013.
- ↑ Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M; et al. (1987). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". N Engl J Med. 317 (2): 75–80. doi:10.1056/NEJM198707093170203. PMID 3473284.
- ↑ Mineo I, Kono N, Shimizu T, Hara N, Yamada Y, Sumi S; et al. (1985). "Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII". J Clin Invest. 76 (2): 556–60. doi:10.1172/JCI112006. PMC 423860. PMID 3861621.
- ↑ Yamasaki T, Hamaguchi T, Nakajima H, Matsuzawa Y (1996). "[Myogenic hyperuricemia]". Nihon Rinsho. 54 (12): 3343–8. PMID 8976117.
- ↑ Mineo I, Tarui S (1995). "Myogenic hyperuricemia: what can we learn from metabolic myopathies?". Muscle Nerve Suppl. 3: S75–81. PMID 7603532.
- ↑ Swoboda, Kathryn J.; Specht, Linda; Jones, H.Royden; Shapiro, Frederic; DiMauro, Salvatore; Korson, Mark (1997). "Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet". The Journal of Pediatrics. 131 (6): 932–934. doi:10.1016/S0022-3476(97)70048-9. ISSN 0022-3476.
- ↑ Fujii H, Miwa S (2000). "Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency". Baillieres Best Pract Res Clin Haematol. 13 (1): 141–8. PMID 10916683.