All issues > Volume 38(4); 1995

Case Report

J Korean Pediatr Soc. 1995;38(4):545-551. Published online April 15, 1995.

A Case of Glycogen Storage Disease Type Ⅰb

Ji Young JY Rhou¹, Eun Yae EY Park¹, Kyung Hee KH Kim¹, Su Yeun SY Jo², Hye Su HS Koo²

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 Ⅰis 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 Ⅰby enzyme analysis. We have experienced a case of GSD type Ⅰand reported with brief review of literatures.

Keywords :GSD(Glycogen storage disease), Enzyme analysis