Gut Liver.
2009 Mar;3(1):60-63.
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation
- Affiliations
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- 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. kmkim@amc.seoul.kr
- 2Department of Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- 3Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- 4Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- 5Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
- 6Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
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.
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