Glycogen storage disease type VII

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Feham Tariq, MD [2], Anmol Pitliya, M.B.B.S. M.D.[3]

Synonyms and keywords:Tarui's disease; glycogen storage disease type 7; GSD type VII; phosphofructokinase deficiency; muscle phosphofructokinase deficiency

Overview

Glycogen storage disease type VII (Tarui's disease) is a rare autosomal recessive disease, clinically characterized by early exercise intolerance which manifests during childhood, with muscle pain and myoglobinuria after exercise or strenuous exercise. In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance. GSD type VII is caused by mutation of phosphofructokinase gene located at 12q13 for the M (muscle isoform) that results in a deficiency of the phosphofructokinase enzyme which converts fructose-6-phosphate to fructose-1,6-diphosphate.

Historical Perspective

The historical perspective of the glycogen storage disease type VII is as follows:[1][2][3][4][5][6][7]

  • In 1965, Tarui first described the phosphofructokinase (PFK) deficiency in 3 siblings with easy fatigability and exercise intolerance.
  • In 1967, Layer et al suggested autosomal recessive inheritence of the disease by detecting the disease in a 18 year old male.
  • Also in 1967, Satoyoshi and Kowa postulated the role of a inhibitor in the development of disease.
  • In 1980, Vora et al studied a patient with myopathy and hemolysis which were assosciated with PFK deficiency.
  • In 1983 Tani et al studied two Japanese with congenital non-spherocytic hemolytic anemia and mild myopathy, having erythrocyte PFK deficiency.

Classification

There is no established classification of glycogen storage disease type VII.

Pathophysiology

Pathogenesis

Metabolic Pathway

Metabolic pathways showing defects in glycogen storage disease VII, (ɔ) Image courtesy of WikiDoc.org, by "Dr. Anmol Pitliya"

Genetics

Microscopic findings

The following changes are seen in the muscle on muscle biopsy:[20][3][21]

Causes

Differentiating Glycogen Storage Disease Type VII from Other Diseases

Differentiating Glycogen Storage Diseases
Glycogen storage disease Enzyme deficiency Genetics History and symptoms Physical examination Laboratory findings Imaging Other features
Gene mutation Inheritance Chromosome Hypoglycemia Muscle weakness Hypotonia Hepatomegaly Elevated CK Cardiomegaly
Glycogen storage disease type I[23][24][25][26][27][28] Von Gierke's disease GSD type Ia Glucose-6-phosphatase G6PC gene mutation  Autosomal recessive 17q21 + + + + - -
GSD type Ib  Microsomal glucose-6-phosphate transporter  SLC37A4 gene mutation Autosomal recessive 11q23
Glycogen storage disease type II[29][30][31][32][33][34][35][36][37] Pompe disease Infantile onset Acid alpha-glucosidase GAA gene Autosomal recessive 17q25 - + + + + +
  • Elevated LDH
  • Elevated liver aminotransferases
  • Elevated urinary glc4
Late onset Autosomal recessive - + + + + +/-
Glycogen storage disease type III[38][39][40][41][42][43] Cori disease GSD type IIIa Debranching enzyme (deficiency in muscle and liver) AGL gene mutation  Autosomal recessive 1p21 + + + + + +
GSD type IIIb Debranching enzyme (deficiency in liver only) Autosomal recessive
Glycogen storage disease type IV[44][45][46][47][48] Andersen's disease Branching enzyme  GBE1 gene mutation Autosomal recessive 3p12 +/- + + + + + -
Glycogen storage disease type V[49][50][51][52][53][54][55] McArdle disease Muscle glycogen phosphorylase PYGM gene mutation Autosomal recessive 11q13 - + - - + -
Glycogen storage disease type VI[56][57][58][59][60] Hers' disease Autosomal Liver glycogen phosphorylase  PYGL gene mutation Autosomal recessive 14q22 +/- + +/- + - -
X-linked  PYGL gene mutation X-linked recessive X
Glycogen storage disease type VII[14][1][61][5][62][6] Tarui's disease Muscle phosphofructokinase PFKM gene mutation Autosomal recessive 12q13 + + - - + +
Glycogen storage disease type IX[63][57][64] GSD type IXa[65][66][67][68][69] Phosphorylase b kinase (deficiency in liver only) PHKA2 gene mutation X-linked recessive Xp22 + - - + - -
GSD type IXb[70][71][72] Phosphorylase b kinase (deficiency in liver and muscle) PHKB gene mutation Autosomal recessive 16q12 + - - + - -
Glycogen storage disease type X[73][74][75][76] Phosphoglycerate mutase PGAM2 gene mutation Autosomal recessive 7p13 - - - - + -
Glycogen storage disease type XI[77][78][79][80] Lactate dehydrogenase A deficiency Lactate dehydrogenase A LDHA gene mutation Autosomal recessive 11p15 - - - - + -
Glycogen storage disease type XII[81][82][83][84] Aldolase A deficiency Aldolase A ALDOA gene mutation Autosomal recessive 16p11 - + - + - -
Glycogen storage disease type XIII[85] Beta-enolase  ENO3 gene mutation Autosomal recessive 17p13 - + - - + - -
Glycogen storage disease type XIV[86][87] Phosphoglucomutase type 2 PGM1 gene mutation Autosomal recessive 1p31 +/- + - - + -
  • Elevated liver aminotransferases
Glycogen storage disease type 0[88][89][90][91] Lewis' disease Hepatic glycogen synthase GYS2 gene mutation (liver) Autosomal recessive 12p12 + - - - - -

Epidemiology and Demographics

The epidemiology and demographics of the Glycogen storage disease type VII are as follows:[92][15][93]

  • Glycogen storage disease type VII is considered a rare condition; however, more than 100 cases have been found in the literature.
  • The incidence of glycogen storage disease type VII is 2.3 children per 100,000 births per year.
  • Glycogen storage disease type VII commonly affects children, all patients of reported cases died by age 4 years.
  • Glycogen storage disease type VII usually affects individuals of the Japanese and Ashkenazi Jewish descent.
  • Some disease-causing mutations have been found in the PFK-M gene in Italian, French Canadian, and Swiss patients.
  • Glycogen storage disease type VII affects men and women equally.

Risk Factors

  • The most potent risk factor in the development of glycogen storage disease type VII is a sibling with glycogen storage disease type VII.

Screening

  • There is insufficient evidence to recommend routine screening for Tarui's disease.
  • The proband's PFK mutations should be determined for diagnosis and direct further testing for family members.

Natural History, Complications, and Prognosis

Complications:

Common complications of glycogen storage disease type VII disease include:[94][95]

Diagnosis

Diagnostic study of choice

History and Symptoms

The hallmark of glycogen storage disease type VII is muscle exercise intolerance.[98]

The specific areas of focus when obtaining patient history include:

  • Muscle weakness following a high carbohydrate meal
  • Muscle exercise intolerance
  • Slowly progressive limb weakness with or without myoglobinuria or cramps

Most common symptoms

The most common symptoms of glycogen storage disease type VII include:[1][61][99][14]

Less common symptoms

Physical Examination

Physical examination of patients with glycogen storage disease type VII is usually remarkable for:[100][101][102]

Neuromuscular

Cardiovascular

Ophthalmology

Laboratory Findings

The following laboratory findings are seen in glycogen storage disease type VII:[103][104][105][106]

More common findings

Less common findings

Laboratory findings seen after exercise

High concentrations of:

Electrocardiogram

There are no ECG findings associated with glycogen storage disease type VII.

X-ray

There are no x-ray findings associated with glycogen storage disease type VII.

Ultrasound

Ultrasound abdomen may be helpful in the diagnosis of hepatomegaly.

CT scan

There are no CT scan findings associated with glycogen storage disease type VII.

MRI

There are no MRI findings associated with glycogen storage disease type VII.

Other Imaging Findings

There are no other imaging findings associated with glycogen storage disease type VII.

Other Diagnostic Studies

Treatment

Medical Therapy

  • There is no medical treatment for glycogen storage disease type VII.
  • The mainstay of therapy is supportive care.

Surgery

  • Surgical intervention is not recommended for the management of glycogen storage disease type VII.

Primary Prevention

  • Genetic counseling: Genetic counseling should be offered to all parents with a child with glycogen storage disease type VII and to all adults with glycogen storage disease type VII.
  • Prenatal diagnosis: The preferred method for prenatal diagnosis is molecular testing when PFK mutation is known. Mutation analysis is performed either on cultured chorionic villus samples or amniocytes.
  • Screening: The proband's PFK mutations should be determined for diagnosis and direct further testing for family members.

Secondary Prevention

Effective measures for the secondary prevention of glycogen storage disease type VII include:[107][108]

  • Avoidance of strenuous exercise
  • High carbohydrate meal: Consumption of high carbohydrate meal should be avoided before exercise.
  • Ketogenic diet

References

  1. ↑ 1.0 1.1 1.2 TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M (1965). "PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS". Biochem. Biophys. Res. Commun. 19: 517–23. PMID 14339001.
  2. ↑ Toscano A, Musumeci O (2007). "Tarui disease and distal glycogenoses: clinical and genetic update". Acta Myol. 26 (2): 105–7. PMC 2949577. PMID 18421897.
  3. ↑ 3.0 3.1 Lin HC, Young C, Wang PJ, Shen YZ (1999). "Muscle phosphofructokinase deficiency (Tarui's disease): report of a case". J Formos Med Assoc. 98 (3): 205–8. PMID 10365541.
  4. ↑ Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr Mol Med. 2 (2): 197–212. PMID 11949936.
  5. ↑ 5.0 5.1 Satoyoshi E, Kowa H (1967). "A myopathy due to glycolytic abnormality". Arch Neurol. 17 (3): 248–56. PMID 4228753.
  6. ↑ 6.0 6.1 Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S (1980). "The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy". Blood. 55 (4): 629–35. PMID 6444532.
  7. ↑ Tani K, Fujii H, Takegawa S, Miwa S, Koyama W, Kanayama M; et al. (1983). "Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan". Am J Hematol. 14 (2): 165–74. PMID 6220601.
  8. ↑ Nakajima H, Hamaguchi T, Yamasaki T, Tarui S (1995). "Phosphofructokinase deficiency: recent advances in molecular biology". Muscle Nerve Suppl. 3: S28–34. PMID 7603524.
  9. ↑ Howard, Timothy D.; Akots, Gita; Bowden, Donald W. (1996). "Physical and Genetic Mapping of the Muscle Phosphofructokinase Gene (PFKM): Reassignment to Human Chromosome 12q". Genomics. 34 (1): 122–127. doi:10.1006/geno.1996.0250. ISSN 0888-7543.
  10. ↑ Vestergaard H (1999). "Studies of gene expression and activity of hexokinase, phosphofructokinase and glycogen synthase in human skeletal muscle in states of altered insulin-stimulated glucose metabolism". Dan Med Bull. 46 (1): 13–34. PMID 10081651.
  11. ↑ Inal Gultekin, G.; Raj, K.; Lehman, S.; Hillström, A.; Giger, U. (2012). "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog". Molecular and Cellular Probes. 26 (6): 243–247. doi:10.1016/j.mcp.2012.02.004. ISSN 0890-8508.
  12. ↑ Van Keuren M, Drabkin H, Hart I, Harker D, Patterson D, Vora S (1986). "Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody". Hum Genet. 74 (1): 34–40. PMID 2944814.
  13. ↑ Vora S, Miranda AF, Hernandez E, Francke U (1983). "Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes". Hum Genet. 63 (4): 374–9. PMID 6222962.
  14. ↑ 14.0 14.1 14.2 14.3 Raben N, Sherman JB (1995). "Mutations in muscle phosphofructokinase gene". Hum Mutat. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225.
  15. ↑ 15.0 15.1 Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N (1996). "Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions". Am J Hum Genet. 59 (1): 59–65. PMC 1915105. PMID 8659544.
  16. ↑ Vora S (1983). "Isozymes of human phosphofructokinase: biochemical and genetic aspects". Isozymes Curr Top Biol Med Res. 11: 3–23. PMID 6227585.
  17. ↑ 17.0 17.1 Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P (1995). "Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease)". Muscle Nerve Suppl. 3: S35–8. PMID 7603525.
  18. ↑ Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM; et al. (1994). "Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency". Am J Hum Genet. 55 (2): 305–13. PMC 1918380. PMID 8037209.
  19. ↑ Dunaway GA (1983). "A review of animal phosphofructokinase isozymes with an emphasis on their physiological role". Mol Cell Biochem. 52 (1): 75–91. PMID 6306441.
  20. ↑ Bonilla E, Schotland DL (1970). "Histochemical diagnosis of muscle phosphofructokinase deficiency". Arch Neurol. 22 (1): 8–12. PMID 4243256.
  21. ↑ Hays AP, Hallett M, Delfs J, Morris J, Sotrel A, Shevchuk MM; et al. (1981). "Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy". Neurology. 31 (9): 1077–86. PMID 6943439.
  22. ↑ Howard TD, Akots G, Bowden DW (1996). "Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q". Genomics. 34 (1): 122–7. doi:10.1006/geno.1996.0250. PMID 8661033.
  23. ↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.
  24. ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
  25. ↑ 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.
  26. ↑ 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.
  27. ↑ 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.
  28. ↑ 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/
  29. ↑ 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/
  30. ↑ Di Rocco M, Buzzi D, Tarò M (2007). "Glycogen storage disease type II: clinical overview". Acta Myol. 26 (1): 42–4. PMC 2949314. PMID 17915568.
  31. ↑ Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; et al. (2006). "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease". J Pediatr. 148 (5): 671–676. doi:10.1016/j.jpeds.2005.11.033. PMID 16737883.
  32. ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
  33. ↑ Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F (2000). "Identification of two subtypes of infantile acid maltase deficiency". J Pediatr. 137 (2): 283–5. doi:10.1067/mpd.2000.107112. PMID 10931430.
  34. ↑ Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R (1990). "Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences". DNA Cell Biol. 9 (2): 85–94. doi:10.1089/dna.1990.9.85. PMID 2111708.
  35. ↑ Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA (1988). "Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex". EMBO J. 7 (6): 1697–704. PMC 457155. PMID 3049072.
  36. ↑ Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA (1990). "Characterization of the human lysosomal alpha-glucosidase gene". Biochem J. 272 (2): 493–7. PMC 1149727. PMID 2268276.
  37. ↑ Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K (1996). "Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization". Hum Genet. 97 (3): 404–6. PMID 8786092.
  38. ↑ Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT (1996). "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle". J Clin Invest. 98 (2): 352–7. doi:10.1172/JCI118799. PMC 507437. PMID 8755644.
  39. ↑ Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT (1990). "Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III". J Pediatr. 116 (1): 95–100. PMID 2295969.
  40. ↑ Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T; et al. (2009). "Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations". J Hum Genet. 54 (11): 681–6. doi:10.1038/jhg.2009.100. PMID 19834502.
  41. ↑ Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.
  42. ↑ 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/
  43. ↑ Wolfsdorf JI, Weinstein DA (2003). "Glycogen storage diseases". Rev Endocr Metab Disord. 4 (1): 95–102. PMID 12618563.
  44. ↑ Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA; et al. (2004). "Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)". Neurology. 63 (6): 1053–8. PMID 15452297.
  45. ↑ Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S (2007). "Neuromuscular forms of glycogen branching enzyme deficiency". Acta Myol. 26 (1): 75–8. PMC 2949312. PMID 17915577.
  46. ↑ Brown BI, Brown DH (1966). "Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis". Proc Natl Acad Sci U S A. 56 (2): 725–9. PMC 224432. PMID 5229990.
  47. ↑ McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P; et al. (1996). "Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease". J Inherit Metab Dis. 19 (1): 51–8. PMID 8830177.
  48. ↑ 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/
  49. ↑ McARDLE B (1951). "Myopathy due to a defect in muscle glycogen breakdown". Clin Sci. 10 (1): 13–35. PMID 24540673.
  50. ↑ SCHMID R, MAHLER R (1959). "Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle". J Clin Invest. 38: 2044–58. doi:10.1172/JCI103983. PMC 441792. PMID 14442994.
  51. ↑ Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K (1959). "A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE". Proc Natl Acad Sci U S A. 45 (6): 791–7. PMC 222638. PMID 16590445.
  52. ↑ PEARSON CM, RIMER DG, MOMMAERTS WF (1961). "A metabolic myopathy due to absence of muscle phosphorylase". Am J Med. 30: 502–17. PMID 13733779.
  53. ↑ Grünfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC (1972). "Acute renal failure in McArdle's disease. Report of two cases". N Engl J Med. 286 (23): 1237–41. doi:10.1056/NEJM197206082862304. PMID 4502558.
  54. ↑ Schmidt B, Servidei S, Gabbai AA, Silva AC, de Sousa Bulle de Oliveira A, DiMauro S (1987). "McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote". Neurology. 37 (9): 1558–61. PMID 3476861.
  55. ↑ 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/
  56. ↑ Wallis PG, Sidbury JB, Harris RC (1966). "Hepatic phosphorylase defect. Studies on peripheral blood". Am J Dis Child. 111 (3): 278–82. PMID 5904467.
  57. ↑ 57.0 57.1 Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J; et al. (2014). "The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada". Mol Genet Metab. 113 (3): 171–6. doi:10.1016/j.ymgme.2014.09.005. PMID 25266922.
  58. ↑ Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW (1998). "Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI". Am J Hum Genet. 62 (4): 785–91. PMC 1377030. PMID 9529348.
  59. ↑ Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG (1998). "Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI". Hum Mol Genet. 7 (5): 865–70. PMID 9536091.
  60. ↑ Dagli AI, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23 [Updated 2011 May 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5941/
  61. ↑ 61.0 61.1 Layzer RB, Rowland LP, Ranney HM (1967). "Muscle phosphofructokinase deficiency". Arch Neurol. 17 (5): 512–23. PMID 4228297.
  62. ↑ Waterbury L, Frenkel EP (1972). "Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency". Blood. 39 (3): 415–25. PMID 4258222.
  63. ↑ Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P; et al. (2007). "Glycogen storage disease type IX: High variability in clinical phenotype". Mol Genet Metab. 92 (1–2): 88–99. doi:10.1016/j.ymgme.2007.06.007. PMID 17689125.
  64. ↑ 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/
  65. ↑ Keating JP, Brown BI, White NH, DiMauro S (1985). "X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation". Am J Dis Child. 139 (6): 609–13. PMID 3859203.
  66. ↑ Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J; et al. (1994). "Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2)". Genomics. 21 (3): 620–5. PMID 7959740.
  67. ↑ Schimke RN, Zakheim RM, Corder RC, Hug G (1973). "Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency". J Pediatr. 83 (6): 1031–4. PMID 4518931.
  68. ↑ Willems PJ, Gerver WJ, Berger R, Fernandes J (1990). "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients". Eur J Pediatr. 149 (4): 268–71. PMID 2303074.
  69. ↑ Hendrickx J, Bosshard NU, Willems P, Gitzelmann R (1998). "Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years". Eur J Pediatr. 157 (11): 919–23. PMID 9835437.
  70. ↑ Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW (1981). "Glycogenosis due to liver and muscle phosphorylase kinase deficiency". Pediatr Res. 15 (4 Pt 1): 299–303. doi:10.1203/00006450-198104000-00002. PMID 6938920.
  71. ↑ Gray RG, Kumar D, Whitfield AE (1983). "Glycogen phosphorylase b kinase deficiency in three siblings". J Inherit Metab Dis. 6 (3): 107. PMID 6422139.
  72. ↑ Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS; et al. (1997). "Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)". Hum Mol Genet. 6 (7): 1109–15. PMID 9215682.
  73. ↑ Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ; et al. (1999). "Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene". Neuromuscul Disord. 9 (6–7): 399–402. PMID 10545043.
  74. ↑ Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S (1993). "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency". Am J Hum Genet. 52 (3): 472–7. PMC 1682163. PMID 8447317.
  75. ↑ Kissel JT, Beam W, Bresolin N, Gibbons G, DiMauro S, Mendell JR (1985). "Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test". Neurology. 35 (6): 828–33. PMID 2987758.
  76. ↑ DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R (1981). "Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy". Science. 212 (4500): 1277–9. PMID 6262916.
  77. ↑ Yoshikuni K, Tagami H, Yamada M, Sudo K, Kanno T (1986). "Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency". Arch Dermatol. 122 (12): 1420–4. PMID 3789777.
  78. ↑ Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K (1988). "Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy". Clin Chim Acta. 173 (1): 89–98. PMID 3383424.
  79. ↑ Maekawa M, Sudo K, Kanno T (1986). "Immunochemical studies on lactate dehydrogenase A subunit deficiencies". Am J Hum Genet. 39 (2): 232–8. PMC 1683931. PMID 3092644.
  80. ↑ Takayasu S, Fujiwara S, Waki T (1991). "Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles". J Am Acad Dermatol. 24 (2 Pt 2): 339–42. PMID 1999544.
  81. ↑ Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K (1987). "Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation". Proc Natl Acad Sci U S A. 84 (23): 8623–7. PMC 299598. PMID 2825199.
  82. ↑ Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W (1973). "Red cell aldolase deficiency and hemolytic anemia: a new syndrome". Trans Assoc Am Physicians. 86: 154–66. PMID 4788792.
  83. ↑ Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B, Gottschalk U; et al. (1996). "Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A." N Engl J Med. 334 (17): 1100–4. doi:10.1056/NEJM199604253341705. PMID 8598869.
  84. ↑ Hurst JA, Baraitser M, Winter RM (1987). "A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency". Am J Med Genet. 28 (4): 965–70. doi:10.1002/ajmg.1320280423. PMID 3688035.
  85. ↑ Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S; et al. (2001). "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis". Ann Neurol. 50 (2): 202–7. PMID 11506403.
  86. ↑ Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S; et al. (2014). "Multiple phenotypes in phosphoglucomutase 1 deficiency". N Engl J Med. 370 (6): 533–42. doi:10.1056/NEJMoa1206605. PMC 4373661. PMID 24499211.
  87. ↑ Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G; et al. (2009). "Muscle glycogenosis due to phosphoglucomutase 1 deficiency". N Engl J Med. 361 (4): 425–7. doi:10.1056/NEJMc0901158. PMID 19625727.
  88. ↑ Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P; et al. (1998). "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". J Clin Invest. 102 (3): 507–15. doi:10.1172/JCI2890. PMC 508911. PMID 9691087.
  89. ↑ Laberge AM, Mitchell GA, van de Werve G, Lambert M (2003). "Long-term follow-up of a new case of liver glycogen synthase deficiency". Am J Med Genet A. 120A (1): 19–22. doi:10.1002/ajmg.a.20110. PMID 12794686.
  90. ↑ Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M; et al. (1996). "Liver glycogen synthase deficiency: a rarely diagnosed entity". Eur J Pediatr. 155 (7): 561–7. PMID 8831078.
  91. ↑ 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.
  92. ↑ Haller RG, Vissing J (2004). "No spontaneous second wind in muscle phosphofructokinase deficiency". Neurology. 62 (1): 82–6. PMID 14718702.
  93. ↑ Scrocchi LA, Jones LA (1991). "Alteration of proto-oncogene c-fos expression in neonatal estrogenized BALB/c female mice & murine cervicovaginal tumor LJ6195". Endocrinology. 129 (4): 2251–3. doi:10.1210/endo-129-4-2251. PMID PMC1915105 MCID: PMC1915105 Check |pmid= value (help).
  94. ↑ Al-Hassnan ZN, Al Budhaim M, Al-Owain M, Lach B, Al-Dhalaan H (2007). "Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course". J Child Neurol. 22 (1): 106–8. doi:10.1177/0883073807299968. PMID 17608317.
  95. ↑ Wu PL, Yang YN, Tey SL, Yang CH, Yang SN, Lin CS (2015). "Infantile form of muscle phosphofructokinase deficiency in a premature neonate". Pediatr Int. 57 (4): 746–9. doi:10.1111/ped.12616. PMID 26108272.
  96. ↑ Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S; et al. (2015). "PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry". Neurol Genet. 1 (1): e7. doi:10.1212/NXG.0000000000000007. PMC 4821086. PMID 27066546.
  97. ↑ Argov Z, Barash V, Soffer D, Sherman J, Raben N (1994). "Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?". Neurology. 44 (6): 1097–100. PMID 8208408.
  98. ↑ Brüser A, Kirchberger J, Schöneberg T (2012). "Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease". Biochem Biophys Res Commun. 427 (1): 133–7. doi:10.1016/j.bbrc.2012.09.024. PMID 22995305.
  99. ↑ Danon MJ, Servidei S, DiMauro S, Vora S (1988). "Late-onset muscle phosphofructokinase deficiency". Neurology. 38 (6): 956–60. PMID 2966901.
  100. ↑ Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M’hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio (2012). "Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)". Neuromuscular Disorders. 22 (4): 325–330. doi:10.1016/j.nmd.2011.10.022. ISSN 0960-8966.
  101. ↑ Servidei S, Bonilla E, Diedrich RG, Kornfeld M, Oates JD, Davidson M; et al. (1986). "Fatal infantile form of muscle phosphofructokinase deficiency". Neurology. 36 (11): 1465–70. PMID 2945125.
  102. ↑ Amit R, Bashan N, Abarbanel JM, Shapira Y, Sofer S, Moses S (1992). "Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency". Muscle Nerve. 15 (4): 455–8. doi:10.1002/mus.880150406. PMID 1533013.
  103. ↑ Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M; et al. (1987). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII". N Engl J Med. 317 (2): 75–80. doi:10.1056/NEJM198707093170203. PMID 3473284.
  104. ↑ Mineo I, Kono N, Shimizu T, Hara N, Yamada Y, Sumi S; et al. (1985). "Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII". J Clin Invest. 76 (2): 556–60. doi:10.1172/JCI112006. PMC 423860. PMID 3861621.
  105. ↑ Yamasaki T, Hamaguchi T, Nakajima H, Matsuzawa Y (1996). "[Myogenic hyperuricemia]". Nihon Rinsho. 54 (12): 3343–8. PMID 8976117.
  106. ↑ Mineo I, Tarui S (1995). "Myogenic hyperuricemia: what can we learn from metabolic myopathies?". Muscle Nerve Suppl. 3: S75–81. PMID 7603532.
  107. ↑ Swoboda, Kathryn J.; Specht, Linda; Jones, H.Royden; Shapiro, Frederic; DiMauro, Salvatore; Korson, Mark (1997). "Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet". The Journal of Pediatrics. 131 (6): 932–934. doi:10.1016/S0022-3476(97)70048-9. ISSN 0022-3476.
  108. ↑ Fujii H, Miwa S (2000). "Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency". Baillieres Best Pract Res Clin Haematol. 13 (1): 141–8. PMID 10916683.


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