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European Journal of Pediatrics

, Volume 161, Issue 1, pp S20–S34 | Cite as

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I)

  • Jan Peter RakeEmail author
  • Gepke Visser
  • Philippe Labrune
  • James V. Leonard
  • Kurt Ullrich
  • G. Peter A. Smit
Original Paper

Abstract

Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience of large numbers of patients. To document outcome, to develop guidelines about (long-term) management and follow-up, and to develop therapeutic strategies, the collaborative European Study on GSD I (ESGSD I) was initiated. This paper is an descriptive analysis of data obtained from the retrospective part of the ESGSD I. Included were 231 GSD Ia and 57 GSD Ib patients. Median age of data collection was 10.4 years (range 0.4–45.4 years) for Ia and 7.1 years (0.4–30.6 years) for Ib patients. Data on dietary treatment, pharmacological treatment, and outcome including mental development, hyperlipidaemia and its complications, hyperuricaemia and its complications, bleeding tendency, anaemia, osteopenia, hepatomegaly, liver adenomas and carcinomas, progressive renal disease, height and adult height, pubertal development and bone maturation, school type, employment, and pregnancies are presented. Data on neutropenia, neutrophil dysfunction, infections, inflammatory bowel disease, and the use of granulocyte colony-stimulating factor are presented elsewhere (Visser et al. 2000, J. Pediatr 137:187–191; Visser et al. 2002, Eur J Pediatr DOI 10.1007/s00431-002-1010-0).Conclusion: there is still wide variation in methods of dietary and pharmacological treatment of glycogen storage disease type I. Intensive dietary treatment will improve, but not correct completely, clinical and biochemical status and fewer patients will die as a direct consequence of acute metabolic derangement. With ageing, more and more complications will develop of which progressive renal disease and the complications related to liver adenomas are likely to be two major causes of morbidity and mortality.

Keywords

Cinical course Collaborative European Retrospective Registry Study Dietary and pharmacological treatment Glycogen storage disease type I Outcome 

Abbreviations

BMI

body mass index

CNGDF

continuous nocturnal gastric drip feeding

ESGSD I

European Study on Glycogen Storage Disease Type I

FM

frequent meals

GSD

glycogen storage disease

G6P

glucose-6-phosphate

G6Pase

glucose-6-phosphatase

IBD

inflammatory bowel disease

LT

liver transplantation

MD

metabolic derangement

PCOs

polycystic ovaries

SDS

standard deviation score

UCCS

uncooked corn starch

XO

xanthine oxidase

References

  1. 1.
    Alaupovic P, Fernandes J (1985) The serum apolipoprotein profile of patients with glucose-6-phosphatase deficiency. Pediatr Res 19: 380–384PubMedCrossRefGoogle Scholar
  2. 2.
    Amine EK, Hegstedt DM (1971) Effect of diet on iron absorption in iron-deficient rats. J Nutr 101: 927–936PubMedGoogle Scholar
  3. 3.
    Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 62: 400–405PubMedCentralPubMedCrossRefGoogle Scholar
  4. 4.
    Arion WJ, Wallin BK, Lange AJ, Ballas LM (1975) On the involvement of a glucose-6-phosphate transport system in the function of microsomal glucose-6-phosphatase. Mol Cell Biochem 6: 75–83PubMedCrossRefGoogle Scholar
  5. 5.
    Arion WJ, Canfield WK, Callaway ES, Burger HJ, Hemmerle H, Schubert G, Herling AW, Oekonomopulos R(1998). Direct evidence for the involvement of two glucose 6-phosphate-binding sites in the glucose-6-phosphatase activity of intact liver microsomes. Characterization of T1, the microsomal glucose 6-phosphate transport protein by a direct binding assay. J Biol Chem 273: 6223–6227PubMedCrossRefGoogle Scholar
  6. 6.
    Bandsma RHJ, Rake JP, Visser G, Neese RA, Hellerstein MK, van Duyvenvoorde W, Pricen HMG, Stellaard F, Smith GPA, Kuipers F (2002) Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a. J. Pediatr 140: 256–260PubMedCrossRefGoogle Scholar
  7. 7.
    Bandsma RHJ, Smit GPA, Kuipers F (2002) Disturbed lipid metabolism in glycogen storage disease type 1. Eur J Pediatr DOI 10.1007/s00431-1007-8Google Scholar
  8. 8.
    Baker L, Dahlem S, Goldfarb S, Kern EF, Stanley CA, Egler J, Olshan JS, Heyman S (1989) Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int 35: 1345–1350PubMedCrossRefGoogle Scholar
  9. 9.
    Bernstein (1996) Epidemiology of congenital heart disease. In: Behrman RE, Kliegman RM, Arvin AM, Nelson WE (eds) Nelson textbook of pediatrics, 15th edn. Saunders, Philadelphia, pp 1286–1287Google Scholar
  10. 10.
    Bianchi L (1993) Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr 152[Suppl 1]: S63-S70PubMedCrossRefGoogle Scholar
  11. 11.
    Chen YT (1991) Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. Pediatr Nephrol 5: 71–76PubMedCrossRefGoogle Scholar
  12. 12.
    Chen YT (2001) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease 8th edn. McGraw-Hill, New York, pp 1521–1551Google Scholar
  13. 13.
    Chen YT, Cornblath M, Sidbury JB (1984) Cornstarch therapy in type I glycogen storage disease. N Engl J Med 310: 171–175PubMedCrossRefGoogle Scholar
  14. 14.
    Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB (1988) Renal disease in type I glycogen storage disease. N Engl J Med 318: 7–11PubMedCrossRefGoogle Scholar
  15. 15.
    Chen YT, 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
  16. 16.
    Chen YT, Bazarre CH, Lee MM, Sidbury JB, Coleman RA (1993) Type I glycogen storage disease: nine years of management with cornstarch. Eur J Pediatr 152[Suppl 1]: S56-S59PubMedCrossRefGoogle Scholar
  17. 17.
    Corby DG, Putnam CW, Greene HL (1974) Impaired platelet function in glucose-6-phosphatase deficiency. J Pediatr 85: 71–76PubMedCrossRefGoogle Scholar
  18. 18.
    Faivre L, Houssin D, Valayer J, Brouard J, Hadchouel M, Bernard O (1999) Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia. J Inherit Metab Dis 22: 723–732PubMedCrossRefGoogle Scholar
  19. 19.
    Farber M, Knuppel RA, Binkiewicz A, Kennison RD (1976) Pregnancy and von Gierke's disease. Obstet Gynecol 47: 226–228PubMedGoogle Scholar
  20. 20.
    Fernandes J (1974) The effect of disaccharides on the hyper-lactacidaemia of glucose-6-phosphatase-deficient children. Acta Paediatr Scand 63: 695–698.PubMedCrossRefGoogle Scholar
  21. 21.
    Fernandes J, Smit GPA (2000) The glycogen storage diseases. In: Fernandes J, Saudubray JM, Berghe G van den (eds) Inborn metabolic diseases, 3rd edn. Springer, Berlin Heidelberg New York, pp 85–101CrossRefGoogle Scholar
  22. 22.
    Fernandes J, Berger R, Smit GPA (1984) Lactate as a cerebral metabolic fuel for glucose-6-phosphatase deficient children. Pediatr Res 19: 335–339CrossRefGoogle Scholar
  23. 23.
    Fernandes J, Smit GPA, Berger R (1988) Outcome of the treatment of glycogen storage disease. Acta Paediatr Jpn 30: 457–461PubMedCrossRefGoogle Scholar
  24. 24.
    Fernandes J, Alaupovic P, Wit JM (1989) Gastric drip feeding in patients with glycogen storage disease type I: its effects on growth and plasma lipids and apolipoproteins. Pediatr Res 25: 327–331PubMedCrossRefGoogle Scholar
  25. 25.
    Field JB, Epstein S, Egan T (1965) Studies in glycogen storage disease I. Intestinal glucose-6-phosphatase activity in patients with von Gierke's disease and their parents. J Clin Invest 7: 1240–1247CrossRefGoogle Scholar
  26. 26.
    Fine RN, Kogut MD, Donnell GN (1969) Intestinal absorption in type I glycogen storage disease. J Pediatr 75: 632–635PubMedCrossRefGoogle Scholar
  27. 27.
    Forget PP, Fernandes J, Begemann PH (1974) Triglyceride clearing in glycogen storage disease. Pediatr Res 8: 114–119PubMedCrossRefGoogle Scholar
  28. 28.
    Frost HM, Schonau E (2000) The “muscle-bone unit” in children and adolescents: a 2000 overview. J Pediatr Endocrinol Metab 13: 571–590PubMedCrossRefGoogle Scholar
  29. 29.
    Gerin I, Veiga-da-Cuncha M, Achouri Y, Collet JF, Van Schaftingen E (1997) Sequence of a putative glucose-6-phosphate translocase mutated in glycogen storage disease type Ib. FEBS Lett 419: 235–238PubMedCrossRefGoogle Scholar
  30. 30.
    Gitzelmann R, Spycher MA (1993) Oral cornstarch therapy: is persorption harmless? Eur J Pediatr 152: 592–594PubMedCrossRefGoogle Scholar
  31. 31.
    Goldstein JL, Hobbs HH, Brown MS (1994) Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1981–2030Google Scholar
  32. 32.
    Greene HL, Slonim AE, O'Neill JA, Burr IM (1976) Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. N Engl J Med 294: 423–425PubMedCrossRefGoogle Scholar
  33. 33.
    Greene HL, Swift LL, Knapp HR (1991) Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease. J Pediatr 119: 398–403PubMedCrossRefGoogle Scholar
  34. 34.
    Hamaoka K, Nakagawa M, Furukawa N, Sawada T (1990) Pulmonary hypertension in type I glycogen storage disease. Pediatr Cardiol 11: 54–56PubMedCrossRefGoogle Scholar
  35. 35.
    Hammer LD, Krämer HC, Wilson DM, Ritter PL, Dornbusch SM (1991) Standardized percentile curves of body-mass index for children and adolescents. Am J Dis Child 145: 259–263PubMedGoogle Scholar
  36. 36.
    Harris JC (2000) Psychosocial care of the child and family. In: Fernandes J, Saudubray JM, Berghe G van den (eds) Inborn metabolic diseases, 3rd edn. Springer, Berlin Heidelberg New York, pp 63–74CrossRefGoogle Scholar
  37. 37.
    Hayde M, Widhalm K (1990) Effects of cornstarch treatment in very young children with type I glycogen storage disease. Eur J Pediatr 149: 630–633PubMedCrossRefGoogle Scholar
  38. 38.
    Herman TE (1995) Glycogenose type IA avec pancreatite aigue J Radiol 76: 51–53PubMedGoogle Scholar
  39. 39.
    Hutton RA, Macnab AJ, Rivers RPA (1976) Defect of platelet function associated with chronic hypoglycemia. Arch Dis Child 51: 49–55PubMedCentralPubMedCrossRefGoogle Scholar
  40. 40.
    Johnson MP, Compton A, Drugan A, Evans MI (1990) Metabolic control of von Gierke disease (glycogen storage disease type Ia) in pregnancy: maintenance of euglycemia with cornstarch. Obstet Gynecol 75: 507–510PubMedGoogle Scholar
  41. 41.
    Kane JP, Havel RJ (1994) Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1872–1885Google Scholar
  42. 42.
    Koestinger A, Gillet M, Chiolero R, Mosimann F, Tappy L (2000) Effect of liver transplantation on hepatic glucose metabolism in a patient with type I glycogen storage disease. Transplantation 69: 2205–2207PubMedCrossRefGoogle Scholar
  43. 43.
    Kikuchi M, Hasegawa K, Handa I, Watabe M, Narisawa K, Tada K (1991) Chronic pancreatitis in a child with glycogen storage disease type 1. Eur J Pediatr 150: 852–853PubMedCrossRefGoogle Scholar
  44. 44.
    Kimmerle R, Schuster M, Neises G, Wendel U (1999) Adult patients with GSD 1: prevalence and late complications in North Rhine (abstract). J Inherit Metab Dis 22[Suppl 1]: 41Google Scholar
  45. 45.
    Kishnani P, Bengur AR, Chen YT (1996) Pulmonary hypertension in glycogen storage disease type I. J Inherit Metab Dis 19: 213–216PubMedCrossRefGoogle Scholar
  46. 46.
    Labrune P, Trioche P, Duvaltier I, Chevalier P, Odievre M (1997) Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 24: 276–279PubMedCrossRefGoogle Scholar
  47. 47.
    Lee P (1999) Hepatic tumours in glycogen storage disease type I. BIMDG Spring: 32–37Google Scholar
  48. 48.
    Lee PJ, Celermajer DS, Robinson J, McCarthy SN, Betteridge DJ, Leonard JV (1994) Hyperlipidaemia does not impair vascular endothelial function in glycogen storage disease type 1a. Atherosclerosis 110; 95–100PubMedCrossRefGoogle Scholar
  49. 49.
    Lee P, Mather S; Owens C, Leonard J, Dicks-Mireaux C (1994) Hepatic ultrasound findings in the glycogen storage diseases. Br J Radiol 67: 1062–1066PubMedCrossRefGoogle Scholar
  50. 50.
    Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV (1995) The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. Clin Endocrinol Oxf 42: 601–606PubMedCrossRefGoogle Scholar
  51. 51.
    Lee PJ, Leonard JV, Dicks-Mireaux C (1995) Focal fatty liver change in glycogenosis type 1 A. Eur J Pediatr 154: 332PubMedCrossRefGoogle Scholar
  52. 52.
    Lee PJ, Dalton RN, Shah V, Hindmarsh PC, Leonard JV (1995) Glomerular and tubular function in glycogen storage disease. Pediatr Nephrol 9: 705–710PubMedCrossRefGoogle Scholar
  53. 53.
    Lee PJ, Patel JS, Fewtrell M, Leonard JV, Bishop NJ (1995) Bone mineralisation in type 1 glycogen storage disease. Eur J Pediatr 154: 483–487PubMedCrossRefGoogle Scholar
  54. 54.
    Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 262: 580–583PubMedCrossRefGoogle Scholar
  55. 55.
    Levy E, Thibault LA, Roy CC, Bendayan M, Lepage G, Letarte J (1988) Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding. J Lipid Res 29: 215–226PubMedGoogle Scholar
  56. 56.
    Levy E, Thibault L, Roy CC, Letarte J, Lambert M, Seidman EG (1990) Mechanisms of hypercholesterolaemia in glycogen storage disease type I: defective metabolism of low density lipoprotein in cultured skin fibroblasts. Eur J Clin Invest 20: 253–260PubMedCrossRefGoogle Scholar
  57. 57.
    Lin B, Hiraiwa H, Pan CJ, Nordlie RC, Chou JY (1999) Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. Hum Genet 105: 515–517PubMedCrossRefGoogle Scholar
  58. 58.
    Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT (1999) Liver transplantation for glycogen storage disease type I, III, and IV. Eur J Pediatr 158[Suppl 2]: S43-S48PubMedCentralPubMedCrossRefGoogle Scholar
  59. 59.
    Milla PJ, Atherton DA, Leonard JV, Wolff OH, Lake BD (1978) Disordered intestinal function in glycogen storage disease. J Inherit Metab Dis 1: 155–157PubMedCrossRefGoogle Scholar
  60. 60.
    Nakamura T, Ozawa T, Kawasaki T, Yasumi K, Wang DY, Kitagawa M, Takehira Y, Tamakoshi K, Yamada M, Kida H, Sugie H, Nakamura H, Sugimura H (1999) Case report: hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family. J Gastroenterol Hepatol 14: 553–558PubMedCrossRefGoogle Scholar
  61. 61.
    Ohura T, Inoue CN, Abukawa D, Chiba AT, Tanaka T, Kakizawa H (1995) Progressive pulmonary hypertension: a fatal complication of type I glycogen storage disease. J Inherit Metab Dis 18: 361–362PubMedCrossRefGoogle Scholar
  62. 62.
    Parker P, Burr I, Slonim A, Ghishan FK, Greene H (1981) Regression of hepatic adenomas in type Ia glycogen storage disease with dietary therapy. Gastroenterology 81: 534–536PubMedGoogle Scholar
  63. 63.
    Parscau L de, Guibaud P, Labrune P, Odievre M (1988) Evolution a long terme des glycogenoses hepatiques. Etude retrospective de 76 observations. Arch Fr Pediatr 45: 641–645PubMedGoogle Scholar
  64. 64.
    Rake JP, Huismans D, Visser G, Piers DA, Smit GPA (1999) Osteopenia in glycogen storage disease type I. BIMDG Newsletter Spring: 27–31Google Scholar
  65. 65.
    Rake JP, Berge AM ten, Visser G, Verlin E, Niezen-Koning KE, Buys CHCM, Smit GPA, Scheffer H (2000) Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart. Eur J Pediatr 159: 322–330PubMedCrossRefGoogle Scholar
  66. 66.
    Reitsma-Bierens WC (1993) Renal complications in glycogen storage disease type I. Eur J Pediatr 152 [Suppl 1]: S60-S62PubMedCrossRefGoogle Scholar
  67. 67.
    Reitsma-Bierens WC, Smit GP, Troelstra JA (1992) Renal function and kidney size in glycogen storage disease type I. Pediatr Nephrol 6: 236–238PubMedCrossRefGoogle Scholar
  68. 68.
    Restaino I, Kaplan BS, Stanley C, Baker L (1993) Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 122: 392–396PubMedCrossRefGoogle Scholar
  69. 69.
    Rijn G van, Huitema S, Rake JP, Visser G, Heringa MP, Spronsen FJ van, Smit GPA (2000) Dietary management of glycogen storage disease Ia patients in pregnancy (abstract). J Inherit Metab Dis 23[Suppl 1]: 162Google Scholar
  70. 70.
    Ryan IP, Havel RJ, Laros RK (1994) Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke's disease). Am J Obstet Gynecol 170: 1687–1690PubMedCrossRefGoogle Scholar
  71. 71.
    Schmitz G, Hohage H, Ullrich K (1993) Glucose-6-phosphate: a key compound in glycogenosis I and favism leading to hyperor hypolipidaemia. Eur J Pediatr 152[Suppl 1]: S77-S84PubMedCrossRefGoogle Scholar
  72. 72.
    Shelly LL, Lei KJ, Pan CJ, Sakata SF, Ruppert S, Schutz G, Chou JY (1993) Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type Ia. J Biol Chem 268: 21482–21485PubMedGoogle Scholar
  73. 73.
    Smit GPA (1993) The long-term outcome of patients with glycogen storage disease type Ia. Eur J Pediatr 152[Suppl 1]: S52-S55PubMedCrossRefGoogle Scholar
  74. 74.
    Smit GPA, Ververs MT, Belderok B, van Rijn M, Berger R, Fernandes J (1988) Complex carbohydrates in the dietary management of patients with glycogenosis caused by glucose-6-phosphatase deficiency. Am J Clin Nutr 48: 95–97PubMedGoogle Scholar
  75. 75.
    Smit GPA, Fernandes J, Leonard JV, Mathews EE, Moses SW, Odievre M, Ullrich K (1990) The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis 13: 411–418PubMedCrossRefGoogle Scholar
  76. 76.
    Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA, Chen YT, Crigler JF Jr, Ferreira P, Haworth JC, Herman GE, Issenman RM, Keating JP, Linde R, Roe TF, Senior B, Wolfsdorf JI (1994) Glycogen storage disease in adults. Ann Intern Med 120: 218–226PubMedCrossRefGoogle Scholar
  77. 77.
    Trioche P, Francoual J, Capel L, Odievre M, Lindenbaum A, Labrune P (2000) Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia. J Inherit Metab Dis 23: 107–112PubMedCrossRefGoogle Scholar
  78. 78.
    Ubels FL, Rake JP, Slaets JPJ, Smit GPA, Smit AJ (2002) Is glycogen storage disease Ia associated with atherosclerosis? Eur J Pediatr DOI 10.1007/s00431-002-1006-9Google Scholar
  79. 79.
    Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E (1999) The putative glucose-6-phosphate translocase is mutated in essentially all cases of glycogen storage disease types I non-a. Eur J Hum Genet 7: 717–723PubMedCrossRefGoogle Scholar
  80. 80.
    Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses SW, Ullrich K, Smit GPA (2000) Neutropenia, neutrophil dysfunction and inflammatory bowel disease in glycogen storage disease type Ib. Results of the European study on glycogen storage disease type I. J Pediatr 137: 187–191PubMedCrossRefGoogle Scholar
  81. 81.
    Visser G, Rake JP, Labrune Ph, Leonard JV, Moses S, Ullrich K, Wendel U, Groenier KH, Smit GPA (2002) Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr DOI 10.1007/s00431-002-1010-0Google Scholar
  82. 82.
    Visser G, Rake JP, Kokke FTM, Nikkels PGJ, Sauer PJJ, Smit GPA (2002) Intestinal function in glycogen storage disease type 1. J Inherit Metab Dis (in press)Google Scholar
  83. 83.
    Waddell ID, Burchell A (1993) Identification, purification and genetic deficiencies of the glucose-6-phosphatase system transport proteins. Eur J Pediatr 152[Suppl 1]: S14-S17PubMedCrossRefGoogle Scholar
  84. 84.
    Weinstein DA, Somers MJ, Wolfsdorf JI (2001) Decreased urinary citrate excretion in type 1a glycogen storage disease. J Pediatr 138: 378–382PubMedCrossRefGoogle Scholar
  85. 85.
    Wittenstein B, Klein M, Finckh B, Ullrich K, Kohlschütter A (2002) Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia. Free Radic Biol Med 33: 103–110PubMedCrossRefGoogle Scholar
  86. 86.
    Wolfsdorf JI, Crigler JF (1997) Cornstarch regimens for nocturnal treatment of young adults with type I glycogen storage disease. Am J Clin Nutr 65: 1507–1511PubMedGoogle Scholar
  87. 87.
    Wolfsdorf JI, Crigler JF (1999) Effect of continuous glucose therapy begun in infancy on the long-term clinical course of patients with type I glycogen storage disease. J Pediatr Gastroenterol Nutr 29: 136–143PubMedCrossRefGoogle Scholar
  88. 88.
    Wolfsdorf JI, Keller RJ, Landy H, Crigler JF (1990) Glucose therapy for glycogenesis type 1 in infants: comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings. J Pediatr 117: 384–391PubMedCrossRefGoogle Scholar
  89. 89.
    Wolfsdorf JI, Laffel LM, Crigler JF (1997) Metabolic control and renal dysfunction in type I glycogen storage disease. J Inherit Metab Dis 20: 559–568PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Jan Peter Rake
    • 1
    Email author
  • Gepke Visser
    • 1
  • Philippe Labrune
    • 2
  • James V. Leonard
    • 3
  • Kurt Ullrich
    • 4
  • G. Peter A. Smit
    • 1
  1. 1.Department of Paediatrics, Beatrix Children’s HospitalUniversity Hospital GroningenGroningenThe Netherlands
  2. 2.Hospital Antoine-BéclèreClamartFrance
  3. 3.Institute of Child HealthGreat Ormond Street HospitalLondonUK
  4. 4.Department of PaediatricsUniversity HospitalHamburgGermany

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