Diagnosis of type 1a and type 1c glycogen storage diseases in adults

Ann Burchell, Chim C. Lang, Roland T. Jung, William Bennet, Alan N. Shepherd

    Research output: Contribution to journalArticlepeer-review

    50 Citations (Scopus)

    Abstract

    The hepatic glucose-6-phosphatase system was studied with a novel microanalytical technique in adult patients undergoing liver biopsy. 4 patients were diagnosed as having type 1 glycogen storage disease (GSD). 3 of these patients, who had hypoglycaemic symptoms, had variations of type 1a GSD, which is caused by a defect in the hepatic microsomal glucose-6-phosphatase enzyme. The fourth, with hepatomegaly and no hypoglycaemic symptoms, had a normal glucose-6-phosphatase enzyme but a defect in the hepatic microsomal phosphate/pyrophosphate translocase T2; this is the first report of an adult with type 1c GSD. Adult type 1 GSD should be considered in patients with unresolved hypoglycaemic symptoms and/or unresolved hepatomegaly.

    Original languageEnglish
    Pages (from-to)1059-1062
    Number of pages4
    JournalLancet
    Volume1
    Issue number8541
    DOIs
    Publication statusPublished - 1987

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