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	Glycogen storage disease
Overview
Classification Glycogen storage disease type I Glycogen storage disease type II Glycogen storage disease type III Glycogen storage disease type IV Glycogen storage disease type V Glycogen storage disease type VI Glycogen storage disease type VII
Pathophysiology
Differentiating Glycogen storage disease

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Revision as of 19:39, 26 January 2018

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Glycogen storage disease

Differentiating Glycogen Storage Diseases
Glycogen storage disease			Enzyme deficiency	Genetics			History and symptoms		Physical examination		Laboratory findings	Imaging	Other features
Glycogen storage disease			Enzyme deficiency	Gene mutation	Inheritance	Chromosome	Hypoglycemia	Muscle weakness	Hypotonia	Hepatomegaly	Elevated CK	Cardiomegaly	Other features
Glycogen storage disease type I^[1]^[2]^[3]^[4]^[5]^[6]	Von Gierke's disease	GSD type Ia	Glucose-6-phosphatase	G6PC gene mutation	Autosomal recessive	17q21	+	+	+	+	-	-	Lactic acidosis Hyperlipidemia Hyperuricemia
Glycogen storage disease type I^[1]^[2]^[3]^[4]^[5]^[6]	Von Gierke's disease	GSD type Ib	Microsomal glucose-6-phosphate transporter	SLC37A4 gene mutation	Autosomal recessive	11q23	+	+	+	+	-	-	Lactic acidosis Hyperlipidemia Hyperuricemia
Glycogen storage disease type II^[7]^[8]^[9]^[10]^[11]^[12]^[13]^[14]^[15]	Pompe disease	Infantile onset	Acid alpha-glucosidase	GAA gene	Autosomal recessive	17q25	-	+	+	+	+	+	Elevated LDH Elevated liver aminotransferases Elevated urinary glc4
	Pompe disease	Late onset	Acid alpha-glucosidase	GAA gene	Autosomal recessive	17q25	-	+	+	+	+	+/-
Glycogen storage disease type III^[16]^[17]^[18]^[19]^[20]^[21]	Cori disease	GSD type IIIa	Debranching enzyme (deficiency in muscle and liver)	AGL gene mutation	Autosomal recessive	1p21	+	+	+	+	+	+	Ketosis Hyperlipidemia Elevated liver aminotransferases
	Cori disease	GSD type IIIb	Debranching enzyme (deficiency in liver only)	AGL gene mutation	Autosomal recessive	1p21	+	+	+	+	+	+	Ketosis Hyperlipidemia Elevated liver aminotransferases
Glycogen storage disease type IV^[22]^[23]^[24]^[25]^[26]	Andersen's disease		Branching enzyme	GBE1 gene mutation	Autosomal recessive	3p12	+/-	+	+	+	+	+	-
Glycogen storage disease type V^[27]^[28]^[29]^[30]^[31]^[32]^[33]	McArdle disease		Muscle glycogen phosphorylase	PYGM gene mutation	Autosomal recessive	11q13	-	+	-	-	+	-	Myoglobinuria, may result in renal failure
Glycogen storage disease type VI^[34]^[35]^[36]^[37]^[38]	Hers' disease	Autosomal	Liver glycogen phosphorylase	PYGL gene mutation	Autosomal recessive	14q22	+/-	+	+/-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
	Hers' disease	X-linked	Liver glycogen phosphorylase	PYGL gene mutation	X-linked recessive	X	+/-	+	+/-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
Glycogen storage disease type VII^[39]^[40]^[41]^[42]^[43]^[44]	Tarui's disease		Muscle phosphofructokinase	PFKM gene mutation	Autosomal recessive	12q13	+	+	-	-	+	+	Reticulocytosis Hyperuricemia Myoglobinuria Hemolytic anemia
Glycogen storage disease type IX^[45]^[35]^[46]		GSD type IXa^[47]^[48]^[49]^[50]^[51]	Phosphorylase b kinase (deficiency in liver only)	PHKA2 gene mutation	X-linked recessive	Xp22	+	-	-	+	-	-	Hyperlipidemia Elevated liver aminotransferases Hyperuricemia Fasting ketosis
Glycogen storage disease type IX^[45]^[35]^[46]		GSD type IXb^[52]^[53]^[54]	Phosphorylase b kinase (deficiency in liver and muscle)	PHKB gene mutation	Autosomal recessive	16q12	+	-	-	+	-	-	Hyperlipidemia Elevated liver aminotransferases
Glycogen storage disease type X^[55]^[56]^[57]^[58]			Phosphoglycerate mutase	PGAM2 gene mutation	Autosomal recessive	7p13	-	-	-	-	+	-	Myoglobinuria Gout (tophy) Severe coronary arteriosclerosis
Glycogen storage disease type XI^[59]^[60]^[61]^[62]	Lactate dehydrogenase A deficiency		Lactate dehydrogenase A	LDHA gene mutation	Autosomal recessive	11p15	-	-	-	-	+	-	Muscle stiffness Lactic acidosis Myoglobinuria Easy fatigue
Glycogen storage disease type XII^[63]^[64]^[65]^[66]	Aldolase A deficiency		Aldolase A	ALDOA gene mutation	Autosomal recessive	16p11	-	+	-	+	-	-	Hemolytic anemia Splenomegaly
Glycogen storage disease type XIII^[67]			Beta-enolase	ENO3 gene mutation	Autosomal recessive	17p13	-	+	-	-	+	-	-
Glycogen storage disease type XIV^[68]^[69]			Phosphoglucomutase type 2	PGM1 gene mutation	Autosomal recessive	1p31	+/-	+	-	-	+	-	Elevated liver aminotransferases
Glycogen storage disease type 0^[70]^[71]^[72]^[73]	Lewis' disease		Hepatic glycogen synthase	GYS2 gene mutation (liver)	Autosomal recessive	12p12	+	-	-	-	-	-	Fasting hypoglycemia and ketosis Postprandial hyperglycemia and lactic acidosis

References

↑ 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.
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↑ 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.

[pmid10322403-1] Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.

[pmid17552001-2] Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.

[pmid21599942-3] 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.

[KishnaniAustin2014-4] 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.

[pmid12373567-5] 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.

[6] 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/

[7] 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/

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@@ Line 7: / Line 7: @@
 {|
-!colspan="15" style="background:#4479BA; color: #FFFFFF;" align="center" + | Differentiating Glycogen Storage Diseases
+! 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
@@ Line 28: / Line 28: @@
 ! style="background:#4479BA; color: #FFFFFF;" align="center" + |Cardiomegaly
 |-
-| rowspan="2" style="background:#DCDCDC;" align="center" + |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" + |[[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
+| 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:#DCDCDC;" align="center" + |'''GSD type Ia'''
-| style="background:#F5F5F5;" align="center" + |Glucose-6-phosphatase
+| 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" + |[[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" + | +
@@ Line 42: / Line 42: @@
 | rowspan="2" style="background:#F5F5F5;" align="center" + | -
 | rowspan="2" style="background:#F5F5F5;" + |
-* Lactic acidosis
+* [[Lactic acidosis]]
-* Hyperlipidemia
+* [[Hyperlipidemia]]
-* Hyperuricemia
+* [[Hyperuricemia]]
 |-
-| style="background:#DCDCDC;" align="center" + |GSD type Ib
+| 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" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |11q23
 |-
-| rowspan="2" style="background:#DCDCDC;" align="center" + |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" + |[[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
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Pompe disease|'''Pompe disease''']]
-| style="background:#DCDCDC;" align="center" + |Infantile onset
+| style="background:#DCDCDC;" align="center" + |'''Infantile onset'''
-| rowspan="2" style="background:#F5F5F5;" align="center" + |Alpha acid-glucosidase
+| 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
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
 | rowspan="2" style="background:#F5F5F5;" align="center" + |17q25
 | style="background:#F5F5F5;" align="center" + | -
@@ Line 66: / Line 66: @@
 | style="background:#F5F5F5;" align="center" + | +
 | rowspan="2" style="background:#F5F5F5;" + |
-* Elevated LDH
+* Elevated [[LDH]]
-* Elevated liver aminotransferases
+* Elevated [[liver]] aminotransferases
 * Elevated urinary glc4
 |-
-| style="background:#DCDCDC;" align="center" + |Late onset
+| style="background:#DCDCDC;" align="center" + |'''Late onset'''
-| style="background:#F5F5F5;" align="center" + |Autosomal recessive
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + | -
 | style="background:#F5F5F5;" align="center" + | +
@@ Line 79: / Line 79: @@
 | style="background:#F5F5F5;" align="center" + | +/-
 |-
-| rowspan="2" style="background:#DCDCDC;" align="center" + |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" + |[[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
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Cori disease|'''Cori disease''']]
-| style="background:#DCDCDC;" align="center" + |GSD type IIIa
+| style="background:#DCDCDC;" align="center" + |'''GSD type IIIa'''
-| style="background:#F5F5F5;" align="center" + |Debranching enzyme (deficiency in muscle and liver)
+| 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
+| 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;" align="center" + | +
 | rowspan="2" style="background:#F5F5F5;" + |
-* Ketosis
+* [[Ketosis]]
-* Hyperlipidemia
+* [[Hyperlipidemia]]
 * Elevated liver aminotransferases
 |-
-| style="background:#DCDCDC;" align="center" + |GSD type IIIb
+| style="background:#DCDCDC;" align="center" + |'''GSD type IIIb'''
-| style="background:#F5F5F5;" align="center" + |Debranching enzyme (deficiency in liver only)
+| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in liver only)
-| style="background:#F5F5F5;" align="center" + |Autosomal recessive
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
 |-
-| style="background:#DCDCDC;" align="center" + |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>
+| 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
+| 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" + |[[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" + | +
@@ Line 115: / Line 115: @@
 | style="background:#F5F5F5;" align="center" + | -
 |-
-| style="background:#DCDCDC;" align="center" + |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>
+| 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
+| colspan="2" style="background:#DCDCDC;" align="center" + |[[McArdle disease|'''McArdle disease''']]
-| style="background:#F5F5F5;" align="center" + |Muscle glycogen phosphorylase
+| 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" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |11q13
 | style="background:#F5F5F5;" align="center" + | -
@@ Line 128: / Line 128: @@
 | style="background:#F5F5F5;" align="center" + | -
 | style="background:#F5F5F5;" + |
-* Myoglobuminuria, may result in renal failure
+* [[Myoglobinuria]], may result in [[renal failure]]
 |-
-| rowspan="2" style="background:#DCDCDC;" align="center" + |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" + |[[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
+| rowspan="2" style="background:#DCDCDC;" align="center" + |[[Hers' disease|'''Hers' disease''']]
-| style="background:#DCDCDC;" align="center" + |Autosomal
+| style="background:#DCDCDC;" align="center" + |'''Autosomal'''
-| rowspan="2" style="background:#F5F5F5;" align="center" + |Liver glycogen phosphorylase
+| 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" + |[[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;" align="center" + | -
 | rowspan="2" style="background:#F5F5F5;" + |
-* Hyperlipidemia
+* [[Hyperlipidemia]]
 * Elevated liver aminotransferases
 |-
-| style="background:#DCDCDC;" align="center" + |X-linked
+| style="background:#DCDCDC;" align="center" + |'''X-linked'''
-| style="background:#F5F5F5;" align="center" + |
+| style="background:#F5F5F5;" align="center" + | PYGL gene mutation
-| style="background:#F5F5F5;" align="center" + |X-linked recessive
+| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]]
-| style="background:#F5F5F5;" align="center" + |
+| style="background:#F5F5F5;" align="center" + |X
 |-
-| style="background:#DCDCDC;" align="center" + |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>
+| 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
+| colspan="2" style="background:#DCDCDC;" align="center" + |[[Tarui's disease|'''Tarui's disease''']]
-| style="background:#F5F5F5;" align="center" + |Muscle phosphofruktokinase
+| 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" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |12q13
 | style="background:#F5F5F5;" align="center" + | +
@@ Line 170: / Line 170: @@
 * [[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>
+| 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:#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" + |[[PHKA2]] gene mutation
-| style="background:#F5F5F5;" align="center" + |X-linked recessive
+| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]]
 | style="background:#F5F5F5;" align="center" + |Xp22
 | style="background:#F5F5F5;" align="center" + | +
@@ Line 183: / Line 183: @@
 | style="background:#F5F5F5;" align="center" + | -
 | style="background:#F5F5F5;" + |
-* Hyperlipidemia
+* [[Hyperlipidemia]]
 * Elevated liver aminotransferases
-* Hyperuricemia
+* [[Hyperuricemia]]
-* Fasting ketosis
+* 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:#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" + |[[PHKB]] gene mutation
-| style="background:#F5F5F5;" align="center" + |Autosomal recessive
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |16q12
 | style="background:#F5F5F5;" align="center" + | +
@@ Line 200: / Line 200: @@
 | style="background:#F5F5F5;" align="center" + | -
 | style="background:#F5F5F5;" + |
-* Hyperlipidemia
+* [[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>
+| 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" + |[[Phosphoglycerate mutase]]
-| style="background:#F5F5F5;" align="center" + |PGAM2 gene mutation
+| style="background:#F5F5F5;" align="center" + |[[PGAM2]] gene mutation
-| style="background:#F5F5F5;" align="center" + |Autosomal recessive
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |7p13
 | style="background:#F5F5F5;" align="center" + | -
@@ Line 215: / Line 215: @@
 | style="background:#F5F5F5;" align="center" + | -
 | style="background:#F5F5F5;" + |
-* Myoglobinuria
+* [[Myoglobinuria]]
-* Gout (tophy)
+* [[Gout]] (tophy)
-* Severe coronary arteriosclerosis
+* 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>
+| 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
+| colspan="2" style="background:#DCDCDC;" align="center" + |'''Lactate dehydrogenase A deficiency'''
-| style="background:#F5F5F5;" align="center" + |LDH A
+| 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" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |11p15
 | style="background:#F5F5F5;" align="center" + | -
@@ Line 232: / Line 232: @@
 | style="background:#F5F5F5;" align="center" + | -
 | style="background:#F5F5F5;" + |
-* Muscle stiffness
+* Muscle [[stiffness]]
-* Lactic acidosis
+* [[Lactic acidosis]]
-* Myoglobinuria
+* [[Myoglobinuria]]
-* Easy fatigue
+* 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>
+| 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
+| colspan="2" style="background:#DCDCDC;" align="center" + |'''Aldolase A deficiency'''
-| style="background:#F5F5F5;" align="center" + |Aldolase A
+| 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" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |16p11
 | style="background:#F5F5F5;" align="center" + | -
@@ Line 250: / Line 250: @@
 | style="background:#F5F5F5;" align="center" + | -
 | style="background:#F5F5F5;" + |
-* Hemolytic anemia
+* [[Hemolytic anemia]]
-* Splenomegaly
+* [[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>
+| 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" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |17p13
 | style="background:#F5F5F5;" align="center" + | -
@@ Line 266: / Line 266: @@
 | 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>
+| 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" + |[[Phosphoglucomutase]] type 2
-| style="background:#F5F5F5;" align="center" + |PGM1 gene mutation
+| style="background:#F5F5F5;" align="center" + |[[PGM1]] gene mutation
-| style="background:#F5F5F5;" align="center" + |Autosomal recessive
+| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |1p31
 | style="background:#F5F5F5;" align="center" + | +/-
@@ Line 280: / Line 280: @@
 * 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>
+| 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
+| colspan="2" style="background:#DCDCDC;" align="center" + |'''Lewis' disease'''
-| style="background:#F5F5F5;" align="center" + |Hepatic glycogen synthase
+| 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" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" align="center" + |12p12
 | style="background:#F5F5F5;" align="center" + | +
@@ Line 293: / Line 293: @@
 | style="background:#F5F5F5;" align="center" + | -
 | style="background:#F5F5F5;" + |
-* Fasting hypoglycemia and ketosis
+* Fasting [[hypoglycemia]] and [[ketosis]]
-* Postprandial hyperglycemia and lactic acidosis
+* Postprandial [[hyperglycemia]] and [[Lactic acidosis (patient information)|lactic acidosis]]
 |}
 ==References==
 {{reflist|2}}

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Glycogen storage disease

References

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