Glycogen Storage Diseases

  • J. Fernandes
  • Y.-T. Chen


Glycogen storage diseases (GSD) are caused by enzyme defects of glycogen degradation. Some enzyme defects cause glycogen storage in the liver due to the fact that the deficient enzyme is mainly localized in the liver. Some enzyme defects are localized in muscles, and some are more generalized. The classification is presented in Table 1, which shows that GSD are not only defined by the deficient enzyme but also by a type number, which reflects the historical sequence of elucidation. In this chapter the GSD are not described according to that chronological order, but rather according to the clinical presentation, mainly hepatic, generalized, or mainly myogenic.


Glycogen Storage Disease Renal Tubular Acidosis Metabolic Derangement Glycogen Storage Disease Type Enzyme Defect 
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  1. 1.
    Von Gierke E (1929) Hepato-nephromegalia glykogenica (Glykogenspeicherkrankheit der Leber und Nieren). Beitr Pathol Anat 82: 497–513Google Scholar
  2. 2.
    Corby DC, Putnam CW, Greene HL (1974) Impaired platelet function in glucose-6-phosphatase deficiency. J Pediatr 85: 71–76PubMedCrossRefGoogle Scholar
  3. 3.
    Milla PJ, Atherton DA, Leonard JV, Wolff OH, Lake BD (1978) Disordered intestinal function in glycogen storage disease type I. Am J Clin Nutr 57: 155–157Google Scholar
  4. 4.
    Fernandes J, Berger R, Smit GPA (1984) Lactate as a cerebral metabolic fuel for glucose-6-phosphatase deficient children. Pediatr Res 18: 335–339PubMedCrossRefGoogle Scholar
  5. 5.
    Alaupovic P, Fernandes J (1985) The serum apolipoprotein profile of patients with glucose-6-phosphatase deficiency. Pediatr Res 19: 380–384PubMedCrossRefGoogle Scholar
  6. 6.
    Fernandes J, Pikaar NA (1972) Ketosis in hepatic glycogenosis. Arch Dis Child 47: 41–46PubMedCrossRefGoogle Scholar
  7. 7.
    Brunelle F, Tammam S, Odievre M, Chaumont P (1984) Liver adenomas in glycogen storage disease in children. Ultrasound and angiographie study. Pediatr Radio] 14: 94–101Google Scholar
  8. 8.
    Bianchi L (1993) Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr 152: S63–70PubMedCrossRefGoogle Scholar
  9. 9.
    Soulier J-P, Gozin D, Lefrere J-J (1986) A new method to assay des-y-carboxyprothrombin. Results obtained in 75 cases of hepatocellular carcinoma. Gastroenterology 91: 1258–1262PubMedGoogle Scholar
  10. 10.
    Chen Y-T, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB (1988) Renal disease in type I glyco gen storage disease. N Engl J Med 318: 7–11PubMedCrossRefGoogle Scholar
  11. 11.
    Chen Y-T, Scheinman JI, Park HK, Coleman RA, Roe CR (1990) Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. N Engl J Med 323: 590–593PubMedCrossRefGoogle Scholar
  12. 12.
    Kikuchi M, Hasegawa K, Handa I et al (1991) Chronic pancreatitis in a child with glycogen storage disease type I. Eur J Pediatr 150: 852–853PubMedCrossRefGoogle Scholar
  13. 13.
    Smit GPA (1993) The long-term outcome of patients with glycogen storage disease type la. Eur J Pediatr 152: S52–55 typeGoogle Scholar
  14. 14.
    Kelsch RC, Oliver WJ (1969) Studies on dietary correction of metabolic abnormalities in hepatorenal glycogenosis. Pediatr Res 3: 160–170PubMedCrossRefGoogle Scholar
  15. 15.
    Mason HH, Andersen DH (1955) Glycogen disease of the liver (von Gierke’s disease) with hepatomata. Pediatrics 16: 785–800PubMedGoogle Scholar
  16. 16.
    Greene HL, Slonim AE, Burr IM, Moran JR (1980) Type I glycogen storage disease: five years of management with nocturnal intragastric feeding. J Pediatr 96: 590–595PubMedCrossRefGoogle Scholar
  17. 17.
    Chen Y-T, Cornblath M, Sidbury JB (1984) Cornstarch therapy in type I glycogen storage disease. N Engl J Med 310: 171–175PubMedCrossRefGoogle Scholar
  18. 18.
    Chen Y-T, Bazzarre CH, Lee MM, Sidbury JB, Coleman RA (1993) Type I glycogen storage disease: nine years of management with cornstarch. Eur J Pediatr 152: S56–59PubMedCrossRefGoogle Scholar
  19. 19.
    Gitzelmann R, Spycher MA (1993) therapy: is persorption harmless? Eur J Pediatr 152: 592–594Google Scholar
  20. 20.
    Fernandes J, Alaupovic P, Wit JM (1989) Gastric drip feeding in patients with glycogen storage dis- ease type I: its effects on growth and plasma lipids and apolipoproteins. Pediatr Res 25: 327–331PubMedCrossRefGoogle Scholar
  21. 21.
    Baker L, Dahlem S, Goldfarb S et al (1989) Hyperfiltration and renal disease in glycogen stor age disease, type I. Kidney Int 35: 1345–1350PubMedCrossRefGoogle Scholar
  22. 22.
    Levy E, Thibault L, Turgeon J et al (1993) Beneficial effects of fish-oil supplements on lipids, lipoproteins, and lipoprotein lipase in patients with glycogen storage disease. J Inherited Metab Dis 1: 922–929Google Scholar
  23. 23.
    Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type la. Science 262: 580–583PubMedCrossRefGoogle Scholar
  24. 24.
    Park HK, Kahler SG, Chen YT (1991) Brain abscess in glycogen storage disease type lb. Acta Paediatr Scand 80: 1103–1106PubMedCrossRefGoogle Scholar
  25. 25.
    Gitzelmann R, Bosshard NU (1993) Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review. Eur J Pediatr 152: S33–38PubMedCrossRefGoogle Scholar
  26. 26.
    Roe TF, Coates TD, Thomas DW, Miller JH, Gilsanz V (1992) Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type lb with colony-stimulating factors. N Engl J Med 326: 1666–1669PubMedCrossRefGoogle Scholar
  27. 27.
    Simmons PS, Smithson WA, Groped GA, Haymond MW (1984) Acute myelogenous leuke mia and malignant hyperthermia in a patient with type Ib glycogen storage disease. J Pediatr 105: 428–431PubMedCrossRefGoogle Scholar
  28. 28.
    Burchell A, Jung RT, Lang CC, Bennet W, Shep herd AN (1987) Diagnosis of type la and type lc glycogen storage diseases in adults. Lancet I: 1059–1062Google Scholar
  29. 29.
    Burchell A, Waddell ID (1993) The molecular basis of the genetic deficiencies of five of the components of the glucose-6-phosphatase system: improved di agnosis. Eur J Pediatr 152: S18–21PubMedCrossRefGoogle Scholar
  30. 30.
    Moses SW, Gadoth N, Bashan N et al (1986) Neuro muscular involvement in glycogen storage disease III. Acta Paediatr Scand 75: 289–296PubMedCrossRefGoogle Scholar
  31. 31.
    Cohen J, Friedman M (1979) Renal tubular acidosis associated with type III glycogenosis. Acta Paediatr Scand 68: 779–782PubMedGoogle Scholar
  32. 32.
    Slonim AE, Coleman RA, Moses SW (1984) Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy. J Pediatr 105: 906–911PubMedCrossRefGoogle Scholar
  33. 33.
    Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen Y-T (1992) Glycogen storage disease type III (glycogen debranching enzyme deficiency): correla tion of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 116: 896–900PubMedGoogle Scholar
  34. 34.
    Gremse DA, Bucavalas JC, Balistreri WF (1990) Efficacy of cornstarch therapy in type III glycogen storage disease. Am J Clin Nutr 52: 671–674PubMedGoogle Scholar
  35. 35.
    Yang BZ, Ding JH, Enghild JJ, Bao Y, Chen YT Oral cornstarch (1992) Molecular cloning and nucleotide sequence of eDNA encoding human muscle glycogen debranching enzyme. J Biol Chem 267: 9294–9299PubMedGoogle Scholar
  36. 36.
    Maire I, Baussan C, Moatti N, Mathieu M, Lemonnier A (1991) Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience. Clin Biochem 24: 169–178PubMedCrossRefGoogle Scholar
  37. 37.
    Madlom M, Besley GTN, Cohen PTW, Marrian VJ (1989) Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle. Eur J Pediatr 149: 52–53PubMedCrossRefGoogle Scholar
  38. 38.
    Nagai T, Matsuo N, Tsuchiya Y et al (1988) Proxi mal renal tubular acidosis associated with glycogen storage disease type 9. Acta Paediatr Scand 77: 460 463Google Scholar
  39. 39.
    Abarbanel JM, Bashan N, Potashnik R et al (1986) Adult muscle phosphorylase “b” kinase deficiency. Neurology 86: 560–562CrossRefGoogle Scholar
  40. 40.
    Servidei S, Metlay LA, Chodosh J, Di Mauro S (1988) Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr 113: 82–85PubMedCrossRefGoogle Scholar
  41. 41.
    Willems PJ, Gerver WJM, Berger R, Fernandes (1990) The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. Eur J Pediatr 149: 268–271Google Scholar
  42. 42.
    Newgard CB, Fletterick RJ, Anderson LA, Lebo RV (1987) The polymorphic locus for glycogen storage disease VI (liver phosphorylase) maps to chromosome 14. Am J Hum Genet 40: 351–364PubMedGoogle Scholar
  43. 43.
    Hendrickx J, Coucke P, Bossuyt P et al (1993) Xlinked liver glycogenosis: localization and isolation of a candidate gene. Hum Mol Genet 2: 583–589PubMedCrossRefGoogle Scholar
  44. 44.
    Servidei S, Riepe RE, Langston C et al (1987) Se vere cardiopathy in branching enzyme deficiency. J Pediatr 111: 51–56 245Google Scholar
  45. 45.
    Selby R, Starzl TE, Yunis E et al (1991) Liver trans plantation for type IV glycogen storage disease. N Engl J Med 324: 39–42PubMedCrossRefGoogle Scholar
  46. 46.
    Thon JV, Khalil M, Cannon JF (1993) Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. J Biol Chem 268: 7509–7513PubMedGoogle Scholar
  47. 47.
    Aynsley-Green A, Williamson DH, Gitzelmann R (1977) Hepatic glycogen synthetase deficiency. Arch Dis Child 52: 573–579PubMedCrossRefGoogle Scholar
  48. 48.
    Mobarhan S, Pintozzi RL, Damle P, Friedman H (1990) Treatment of acid maltase deficiency with a diet high in branched-chain aminoacids. J Parenter Enteral Nutr 14: 210–212CrossRefGoogle Scholar
  49. 49.
    Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R (1990) Extensive genetic heterogene ity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA. Am J Hum Genet 47: 73–78PubMedGoogle Scholar
  50. 50.
    Fox IH, Palella TD, Kelley WN (1987) Hyperuricemia: a marker for cell energy crisis. N Engl J Med 317: 111–112PubMedCrossRefGoogle Scholar
  51. 51.
    Mineo I, Kono N, Hara N et al (1987) Myogenic hyperuricemia. A common pathophysiologic fea J ture of glycogenosis types III, V and VII. N Engl J Med 317: 75–80Google Scholar
  52. 52.
    Slonim AE, Goans PJ (1985) Myopathy in McArdle’s syndrome. Improvement with a highprotein diet. N Engl J Med 312: 355–359Google Scholar
  53. 53.
    Haller RG, Lewis SF (1991) Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med 324: 364–369PubMedCrossRefGoogle Scholar
  54. 54.
    Servidei S, DiMauro S (1989) Disorders of glycogen metabolism of muscle. Neurol Clin 7: 159–178PubMedGoogle Scholar
  55. 55.
    Tsujino S, Shanske S, DiMauro S (1993) Molecular genetic heterogeneity of myophosphorylase deficiency ( McArdle’s disease ). N Engl J Med 329: 241–245Google Scholar
  56. 56.
    Nakajima H, Kono N, Yamasaki T et al (1990) Genetic defect in muscle phosphofructokinase deficiency: abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5’ splice site. J Biol Chem 265: 9392–9395PubMedGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • J. Fernandes
  • Y.-T. Chen

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