A Case of Glycogen Storage Disease Type lb.
- Author:
Ji Young RHOU
1
;
Eun Yae PARK
;
Kyung Hee KIM
;
Su Yeun JO
;
Hye Su KOO
Author Information
1. Department of Pediatrics, Ewah Womans University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
GSD(GLycogen storage disease);
Enzyme analysis
- MeSH:
Biopsy;
Cheek;
Endoplasmic Reticulum;
Failure to Thrive;
Glycogen Storage Disease*;
Glycogen*;
Hemorrhage;
Hepatomegaly;
Humans;
Hyperlipidemias;
Hypoglycemia;
Ketosis;
Liver;
Membranes;
Splenomegaly
- From:Journal of the Korean Pediatric Society
1995;38(4):545-551
- CountryRepublic of Korea
- Language:Korean
-
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
