title: Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.
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.
authors.affiliation: Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Hye Ryun
authors.initials: HR
authors.lastname: Ban
authors.forename: Kyung Mo
authors.initials: KM
authors.lastname: Kim
authors.forename: Joo Young
authors.initials: JY
authors.lastname: Jang
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: You
authors.forename: Kyungeun
authors.initials: K
authors.lastname: Kim
authors.forename: Eunsil
authors.initials: E
authors.lastname: Yu
authors.forename: Dae Yeon
authors.initials: DY
authors.lastname: Kim
authors.forename: Ki Hun
authors.initials: KH
authors.lastname: Kim
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Lee
authors.forename: Sung Gyu
authors.initials: SG
authors.lastname: Lee
authors.forename: Young Nyun
authors.initials: YN
authors.lastname: Park
authors.forename: Hong
authors.initials: H
authors.lastname: Koh
authors.forename: Ki Sup
authors.initials: KS
authors.lastname: Chung