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A new variant of glycogen storage disease type 1: Probably due to a defect in the glucose‐6‐phosphate transport system
Author(s) -
Igarashi Y.,
Otomo H.,
Narisawa K.,
Tada K.
Publication year - 1979
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801717
Subject(s) - glycogen storage disease type i , glycogen storage disease , glucose 6 phosphatase , glycogen , microsome , liver biopsy , intracellular , liver disease , endocrinology , biochemistry , alkaline phosphatase , medicine , biology , biopsy , pathology , chemistry , enzyme
A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose‐6‐phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8µmol/min per g liver) in the absence of detergent, but was normal (10.2µmol/min per g liver) after addition of detergent. Liver stored for a day at −25°C had normal activity (3.4µmol/min per g liver) without detergent. In patients with GSD Type 1a, G6Pase activity was very low both with and without detergent. These findings suggest a defect in glucose‐6‐phosphate transport in the microsomal membrane of the patient's liver. The integrity of microsomal membrane was destroyed by storage at −25°C, when activity of G6Pase in the patient's liver could be demonstrated. This may be the first example of a disorder involving the transport system of an intracellular membrane.