A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

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 , which encodes the glycogen branching enzyme. We report a case of GSD...

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Bibliographic Details
Published in:Pediatric gastroenterology, hepatology & nutrition 2018, Hepatology & Nutrition, 21(4), , pp.365-368
Main Authors: Choi, So Yoon, Kang, Ben, Choe, Jae Young, Lee, Yoon, Jang, Hyo Jeong, Park, Hyung-Doo, Lee, Suk-Koo, Choe, Yon Ho
Format: Article
Language:English
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Case Report
소아과학
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Summary: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 , which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
ISSN:2234-8646
2234-8840
DOI:10.5223/pghn.2018.21.4.365