Chronic inflammatory bowel disease in glycogen storage disease type 1B

J Inherit Metab Dis. 1991;14(5):771-6. doi: 10.1007/BF01799948.


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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chronic Disease
  • Crohn Disease / etiology
  • Glycogen Storage Disease Type I / complications*
  • Glycogen Storage Disease Type I / pathology
  • Humans
  • Inflammatory Bowel Diseases / diet therapy
  • Inflammatory Bowel Diseases / etiology*
  • Inflammatory Bowel Diseases / pathology
  • Male
  • Neutrophils / pathology