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Related Experiment Videos

Intestinal function in glycogen storage disease type I.

G Visser1, J P Rake, F T M Kokke

  • 1Wilhelmina Children's Hospital, University Hospital Utrecht, The Netherlands. g.visser@oprit.rug.nl

Journal of Inherited Metabolic Disease
|September 14, 2002
PubMed
Summary

Diarrhoea in Glycogen storage disease type I (GSD I) lacks a common cause. GSD Ib patients show inflammation and barrier dysfunction, possibly due to neutrophil issues, while GSD Ia causes remain unclear.

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Area of Science:

  • Biochemistry
  • Gastroenterology
  • Genetics

Background:

  • Glycogen storage disease type I (GSD I) involves glucose-6-phosphatase complex defects.
  • Patients with GSD Ia and GSD Ib frequently experience chronic diarrhoea.
  • The etiology of diarrhoea in GSD I patients is currently unknown.

Purpose of the Study:

  • To investigate intestinal functions and morphology in GSD Ia and GSD Ib patients.
  • To identify a potential common cause for chronic diarrhoea in GSD I.
  • To differentiate the underlying mechanisms of diarrhoea between GSD Ia and GSD Ib.

Main Methods:

  • Assessment of faecal fat excretion, alpha1-antitrypsin, and chymotrypsin.
  • Measurement of expiratory hydrogen concentrations.

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  • Analysis of cornstarch absorption and colonic biopsies.

    • Main Results:

    • No single common cause for diarrhoea was identified across all GSD I patients studied.
    • GSD Ib patients exhibited evidence of mucosal barrier dysfunction and inflammation.
    • Increased faecal alpha1-antitrypsin and colonic inflammation were noted in GSD Ib, linked to neutrophil dysfunction.

    Conclusions:

    • Inflammation and compromised mucosal barrier function appear to be the primary drivers of diarrhoea in GSD Ib, potentially related to neutrophil defects.
    • The specific cause of diarrhoea in GSD Ia, and potential overlaps with GSD Ib, requires further investigation into enterocyte glucose-6-phosphatase function.