Journal of Inherited Metabolic Disease

, Volume 14, Issue 5, pp 771–776 | Cite as

Chronic inflammatory bowel disease in glycogen storage disease type 1B

  • I. R. Sanderson
  • W. M. Bisset
  • P. J. Milla
  • J. V. Leonard


Two children with glycogen storage disease type 1B developed chronic inflammatory bowel disease. The first, a 7-year-old boy, had ileitis and later developed perianal disease. The second developed colitis by the age of 9 years; in both the features were consistent with Crohn disease. The children had neutropenia and neutrophil mobility defects characteristic of GSD-1B. It is suggested that these neutrophil abnormalities are important in the pathogenesis of the bowel inflammation.


Crohn Disease Glycogen Storage Disease Chronic Inflammatory Bowel Disease Glycogen Storage Disease Type Hexose Monophosphate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Ambruso, D. R.,et al. Infectious and bleeding complications in patients with glycogenosis 1b.Am. J. Dis. Child. 139 (1985) 691–697PubMedGoogle Scholar
  2. Aggett, P. J. Harries, J. T., Harvey, B. A. M. and Soothill, J. F. An inherited defect of neutrophil mobility in Schwachman syndrome.J. Pediatr. 94 (1979) 391–394PubMedCrossRefGoogle Scholar
  3. Arion, W. J., Wallin, B. K., Lange, A. J. and Ballas, L. M. On the involvement of glucose-6-phosphate transport system in the function of microsomal glucose-6-phosphate.Mol. Chem. Biochem. 6 (1975) 75–83CrossRefGoogle Scholar
  4. Bartram, C. R., Przyrembel, H., Wendel, U., Bremer, H. J., Schaub, J. and Hass, J. R. Glycogenesis type 1b complicated by severe granulocytopenia.Eur. J. Pediatr. 137 (1981) 81–84PubMedCrossRefGoogle Scholar
  5. Bashan, N., Hagai, Y., Potashnik, R. and Moses, S. W. Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease 1b.J. Clin. Invest. 81 (1988) 1317–1322PubMedCrossRefGoogle Scholar
  6. Beaudet, A. L., Anderson, D. C., Michels, V. V., Arion, W. J. and Lange, A. J. Neutropenia and impaired neutrophil migration in type 1b glycogen storage disease.J. Pediatr. 97 (1980) 906–910PubMedCrossRefGoogle Scholar
  7. Cori, G. T. and Cori, C. F. Glucose-6-phosphase of liver in glycogen storage disease.J. Biol. Chem. 199 (1952) 661–667PubMedGoogle Scholar
  8. Fine, R. N., Kogut, M. D. and Donnell, G. N. Intestinal absorption in type 1 glycogen storage disease.J. Pediatr. 75 (1969) 631–635Google Scholar
  9. Gahr, M. and Heyne, K. Impaired function of polymorphonuclear leukocytes in glycogen storage disease type 1b.Eur. J. Pediatr. 140 (1983) 329–330PubMedCrossRefGoogle Scholar
  10. Goldberg, D. E. and Kornfield, S. Evidence for extensive subcellular organisation and asparagine-linked oligosaccharide processing and lysosyme enzyme phosphorylation.J. Biol. Chem. 258 (1983) 3159–3165PubMedGoogle Scholar
  11. Hers, H.-G., Van Hoof, F. and de Barsy, T. Glycogen storage disease. In Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D. (eds.)The Metabolic Basis of Inherited Disease, 6th edn., McGraw-Hill, New York, 1989, pp. 425–452Google Scholar
  12. Heyne, K. and Henke-Wolfe, J. Glycogen storage disease 1b: modification of alpha-1-antitrypsin glycoprotein microhetererogeneity.Eur. J. Pediatr. 148 (1989) 341–343PubMedCrossRefGoogle Scholar
  13. Howell, R. R., Ashton, D. M. and Wyngaarden, J. B. Glucose-6-phosphatase deficiency glycogen storage disease.Pediatrics 29 (1962) 553–565PubMedGoogle Scholar
  14. Igarashi, Y., Otomo, H., Narisawa, K. and Tada, K. A new variant of glycogen storage disease type 1 probably due to a defect in the glucose transport system.J. Inher. Metab Dis. 24 (1979) 45–49CrossRefGoogle Scholar
  15. Lange, A. J., Arion, W. J. and Beaudet, A. L. Type 1b glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.J. Biol. Chem. 255 (1980) 8381–8384PubMedGoogle Scholar
  16. Narisawa, K., Igarashi, Y. and Tada, K. Glycogen storage disease type 1b: genetic disorder involving the transport system of the intracellular membrane.Enzyme 38 (1987) 177–183PubMedGoogle Scholar
  17. Nordlie, R. C., Sukalski, K. A., Munoz, J. M. and Baldwin, J. J. Type 1c: a novel glycogenosis.J. Biol. Chem. 258 (1983) 9739–9744PubMedGoogle Scholar
  18. Roe, T., Schonfeld, N., Thomal, D., Gilsanz, V., Atkinson, J. and Isaacs, H. Regional enteritis and glycogen storage disease 1b.Lancet 1 (1984) 1077PubMedCrossRefGoogle Scholar
  19. Roe, T. F., Thomas, D. W., Gilsanz, V., Isaacs, H. and Atkinson, J. B. Inflammatory bowel disease in glycogen storage disease type 1b.J. Pediatr. 109 (1986) 55–59PubMedCrossRefGoogle Scholar
  20. Sacher, D. B., Aulander, M. O. and Walfish, J. S. Aetiological theories of inflammatory bowel disease.Clin. Gastroenterol. 9 (1980) 231–257Google Scholar
  21. Sanderson, I. R., Udeen, S., Davies, P. S. W., Savage, M. O. and Walker-Smith, J. A. Remission induced by an elemental diet in small bowel Crohn's disease.Arch. Dis. Child. 61 (1987) 123–127CrossRefGoogle Scholar
  22. Seger, R., Steinmann, B., Teifenauer, L., Matsuenga, T. and Gitzelman, R. Glycogenosis 1b. Neutrophil microbicidal defects due to impaired hexose monophosphate shunt.Pediatr. Res. 18 (1984) 297–299PubMedCrossRefGoogle Scholar
  23. Schaub, J. and Bayerl, P. Incidence of glycogen storage disease in the German Federal Republic.Z. Kinderheilkeit 120 (1975) 79–85CrossRefGoogle Scholar
  24. Spencer Peet, J., Norman, M. E., Lake, B. D., McNamara, J. and Patrick, A. D. Hepatic glycogen storage disease.Q. J. Med. 40 (1971) 95–114PubMedGoogle Scholar
  25. Vannier, J. P., Arnaud-Barradier, F., Ricour, C., Schmitz, J., Buriot, D., Griscelli, C. and Rey, J. Neuropenie primitive et congenitale et maladie de Crohn.Arch. Fr. Pediatr. 39 (1982) 367–370PubMedGoogle Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1991

Authors and Affiliations

  • I. R. Sanderson
    • 1
  • W. M. Bisset
    • 1
  • P. J. Milla
    • 1
  • J. V. Leonard
    • 1
  1. 1.The Hospital for Sick Children and the Institute of Child HealthLondonUK

Personalised recommendations