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 | 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, Ki Sup Chung |
Journal | Gut and liver
(Gut Liver)
Vol. 3
Issue 1
Pg. 60-3
(Mar 2009)
ISSN: 2005-1212 [Electronic] Korea (South) |
PMID | 20479904
(Publication Type: Journal Article)
|