Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene

Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems. Here, we reported a case of familial GSD IV induced by nov...

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Bibliographic Details
Main Authors: Yiyang Li, Chuan Tian, Si Huang, Weijie Zhang, Qiuyu Liutang, Yajun Wang, Guoda Ma, Riling Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
GSD IV
GBE1
asymptomatic hypoglycemia
liver transplantation
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1033944/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.1033944/full

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