Gut and Liver 2009; 3(1): 60-63 https://doi.org/10.5009/gnl.2009.3.1.60 Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation
Author Information
Hye Ryun Ban*, Kyung Mo Kim*, Joo Young Jang*, Gu-Hwan Kim, Han-Wook You*,, Kyungeun Kim, Eunsil Yu, Dae Yeon Kim§, Ki Hun Kim§, Young Joo Lee§, Sung Gyu Lee§, Young Nyun Park, Hong Koh, and Ki Sup Chung
Departments of *Pediatrics, Medical Genetics Clinic and Laboratory, Pathology, §Surgery, Asan Medical Center, University of Ulsan College of Medicine, and Departments of Pathology and Pediatrics, Yonsei University College of Medicine, Seoul, Korea

Kyung Mo Kim
© The Korean Society of Gastroenterology, the Korean Society of Gastrointestinal Endoscopy, the Korean Society of Neurogastroenterology and Motility, Korean College of Helicobacter and Upper Gastrointestinal Research, Korean Association the Study of Intestinal Diseases, the Korean Association for the Study of the Liver, Korean Pancreatobiliary Association, and Korean Society of Gastrointestinal Cancer. All rights reserved.

Abstract
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G>A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation. (Gut and Liver 2009;3:60-63)
Keywords: Glycogen storage disease type IV; GBE1; DNA analysis; Liver transplantation; Living donors
Abstract
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G>A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation. (Gut and Liver 2009;3:60-63)
Keywords: Glycogen storage disease type IV; GBE1; DNA analysis; Liver transplantation; Living donors
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