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