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 journalArticle

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    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

    Fingerprint

    Glycogen Storage Disease
    Glucose-6-Phosphatase
    Glycogen Storage Disease Type I
    Hypoglycemic Agents
    Hepatomegaly
    Liver
    Enzymes
    Phosphates
    Biopsy

    Cite this

    Burchell, A., Lang, C. C., Jung, R. T., Bennet, W., & Shepherd, A. N. (1987). Diagnosis of type 1a and type 1c glycogen storage diseases in adults. Lancet, 1(8541), 1059-1062. https://doi.org/10.1016/S0140-6736(87)90484-3
    Burchell, Ann ; Lang, Chim C. ; Jung, Roland T. ; Bennet, William ; Shepherd, Alan N. / Diagnosis of type 1a and type 1c glycogen storage diseases in adults. In: Lancet. 1987 ; Vol. 1, No. 8541. pp. 1059-1062.
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    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.",
    author = "Ann Burchell and Lang, {Chim C.} and Jung, {Roland T.} and William Bennet and Shepherd, {Alan N.}",
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    Burchell, A, Lang, CC, Jung, RT, Bennet, W & Shepherd, AN 1987, 'Diagnosis of type 1a and type 1c glycogen storage diseases in adults', Lancet, vol. 1, no. 8541, pp. 1059-1062. https://doi.org/10.1016/S0140-6736(87)90484-3

    Diagnosis of type 1a and type 1c glycogen storage diseases in adults. / Burchell, Ann; Lang, Chim C.; Jung, Roland T.; Bennet, William; Shepherd, Alan N.

    In: Lancet, Vol. 1, No. 8541, 1987, p. 1059-1062.

    Research output: Contribution to journalArticle

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    AU - Burchell, Ann

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    AU - Shepherd, Alan N.

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    AB - 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.

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