Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.
- Author:
Hye Ryun BAN
1
;
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
;
Ki Sup CHUNG
Author Information
1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. kmkim@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Glycogen storage disease type IV;
GBE1;
DNA analysis;
Liver transplantation;
Living donors
- MeSH:
1,4-alpha-Glucan Branching Enzyme;
Child;
Glycogen;
Glycogen Storage Disease;
Glycogen Storage Disease Type IV;
Humans;
Infant;
Liver;
Liver Cirrhosis;
Liver Transplantation;
Living Donors;
Tissue Donors
- From:Gut and Liver
2009;3(1):60-63
- CountryRepublic of Korea
- Language:English
-
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.
