Proceedings of the Symposium on Chemical Physiology and Pathology
Online ISSN : 2187-4085
Print ISSN : 0386-3417
ISSN-L : 0386-3417
Glycogen Storage Disease Type I due to a Defect in the Glucose-6-Phosphate Transport System
Kuniaki NARISAWAYutaka IGARASHIHiromi OTOMOKeiya TADA
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1981 Volume 20 Pages 41-44

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Abstract

A new variant of glycogen storage disease Type I is described. The clinical symptoms and laboratory findings were consistent those of glucose-6-phosphatase deficiency. The activity of glucose-6-phosphate phosphohydrolase was assayed in a liver specimen biopsied from a patient according to Nordlie and Arion's method. A markedly low activity was found in the absence of detergent but normal activity was obtained by the addition of detergent. These findings suggest a defect in the glucose-6-phosphate transport system in the microsomal membrane of the patient's liver. This may be the first example of a disorder involving the transport system of an intracellular membrane.

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© Japan Society of Clinical Chemistry
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