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KMID : 1038820180210040365
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Pediatric Gastroenterology, Hepatology & Nutrition
2018 Volume.21 No. 4 p.365 ~ p.368
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A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
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Choi So-Yoon
Kang Ben
Choe Jae-Young
Lee Yoon
Jang Hyo-Jeong
Park Hyung-Doo
Lee Suk-Koo
Choe Yon-Ho
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Abstract
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Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
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KEYWORD
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Andersen disease, Glycogen branching enzyme, Liver transplantation
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