抄録
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.
