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KMID : 1188320090030010060
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Gut and Liver
2009 Volume.3 No. 1 p.60 ~ p.63
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Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type 4 and a GBE1 Mutation
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Ban Hye-Ryun
Yu Eun-Sil
Park Young-Nyun
Koh Hong
Chung Ki-Sup
Lee Young-Joo
Kim Ki-Hun
Kim Kyung-Mo
Kim Dae-Yeon
Jang Joo-Young
Kim Kyung-Eun
Kim Gu-Hwan
Yoo Han-Wook
Lee Sung-Gyu
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Abstract
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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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KEYWORD
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Glycogen storage disease type 4, GBE1, DNA analysis, Liver transplantation, Living donors
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