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

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 GBE1, which encodes the glycogen branching enzyme. We report a case of...

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Bibliographic Details
Published in:Pediatric gastroenterology, hepatology & nutrition Vol. 21; no. 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: Journal Article
Language:Korean
Published: 2018
Subjects:
Andersen disease
Glycogen branching enzyme
Liver transplantation
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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 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.
Bibliography:KISTI1.1003/JNL.JAKO201831854887416
ISSN:2234-8646
2234-8840