Abstract

Summary 1. A case of a 12 1/2-year-old girl suffering from the “hepatic” form of glycogen storage disease is presented. 2. Analyses of liver and muscle tissue revealed glycogen structure in both of these organs to be abnormal in possessing extremely short outer branches, and it is postulated that the principal defect may be a lack of the glycogen debranching enzyme, amylo-1, 6-glucosidase. 3. A moderate reduction in liver phosphatase was also noted.

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