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Disordered intestinal function in glycogen storage disease.

P J Milla, D A Atherton, J V Leonard

    Journal of Inherited Metabolic Disease
    |January 1, 1978
    PubMed
    Summary
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    This study investigates small intestinal function in Type I glycogen storage disease (GSD). Findings reveal that impaired glucose-6-phosphatase activity in the small intestine contributes to GSD symptoms, including diarrhea.

    Area of Science:

    • Biochemistry
    • Pediatric Gastroenterology
    • Metabolic Disorders

    Background:

    • Type I glycogen storage disease (GSD) presents with hepatomegaly, hypoglycemia, acidosis, enlarged kidneys, and short stature.
    • Glucose-6-phosphatase deficiency is characteristic of Type I GSD, affecting liver and kidney function.
    • Diarrhea is a frequently observed symptom in Type I GSD patients, yet small intestinal involvement is often underestimated.

    Purpose of the Study:

    • To investigate small intestinal function in patients with Type I GSD.
    • To explore the role of glucose-6-phosphatase activity in the small intestine of GSD patients.
    • To correlate small intestinal dysfunction with clinical manifestations like diarrhea in Type I GSD.

    Main Methods:

    • In vitro techniques were employed to assess small intestinal function.

    Related Experiment Videos

  • In vivo methods were utilized to evaluate small intestinal function.
  • Analysis focused on three pediatric patients diagnosed with Type I GSD.

    • Main Results:

    • The study confirmed defective glucose-6-phosphatase activity within the small intestine of Type I GSD patients.
    • Impaired small intestinal function was demonstrated through both in vitro and in vivo investigations.
    • Results suggest a direct link between small intestinal dysfunction and the occurrence of diarrhea in this patient cohort.

    Conclusions:

    • Small intestinal dysfunction is a significant, often overlooked, feature of Type I GSD.
    • Defective glucose-6-phosphatase activity in the small intestine contributes to the gastrointestinal symptoms observed in Type I GSD.
    • Further investigation into small intestinal involvement is crucial for comprehensive management of Type I GSD.