J Korean Pediatr Soc.
1995 Apr;38(4):545-551.
A Case of Glycogen Storage Disease Type lb
- Affiliations
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- 1Department of Pediatrics, Ewah Womans University College of Medicine, Seoul, Korea.
- 2Department of Anatomical Pathology, Ewah Womans University College of Medicine, Seoul, Korea.
Abstract
- Glycogen storage disease(GSD) type lis due to defect of glycose-6-phosphatase at the membrane of the endoplasmic reticulum in liver. Clinical presentations of GSD 1 are massive hepatomegaly without splenomegaly, failure to thrive, bleeding tendency, hypoglycemia, fasting ketosis and hyperlipidemia. The appearance of patient is short and fat with particularly fat cheeks. Mental development is usually normal. It was diagnosed by liver biopsy and cofirmend as GSD type lby enzyme analysis. We have experienced a case of GSD type land reported with brief review of literatures
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