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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

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Journal of Inherited Metabolic Disease

Abstract

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.

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Authors and Affiliations

  1. Department of Paediatrics, Tohoku University Medical School, 980, Sendai, Japan

    Y. Igarashi, H. Otomo, K. Narisawa & K. Tada

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  1. Y. Igarashi
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  2. H. Otomo
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  3. K. Narisawa
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  4. K. Tada
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Igarashi, Y., Otomo, H., Narisawa, K. et al. A new variant of glycogen storage disease type 1: Probably due to a defect in the glucose-6-phosphate transport system. J Inherit Metab Dis 2, 45–49 (1979). https://doi.org/10.1007/BF01801717

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  • DOI: https://doi.org/10.1007/BF01801717

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