A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene.
10.5223/pghn.2018.21.4.365
- Author:
So Yoon CHOI
1
;
Ben KANG
;
Jae Young CHOE
;
Yoon LEE
;
Hyo Jeong JANG
;
Hyung Doo PARK
;
Suk Koo LEE
;
Yon Ho CHOE
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. i101016@skku.edu
- Publication Type:Case Report
- Keywords:
Andersen disease;
Glycogen branching enzyme;
Liver transplantation
- MeSH:
1,4-alpha-Glucan Branching Enzyme*;
Clinical Coding;
Glycogen Storage Disease Type IV;
Glycogen Storage Disease*;
Glycogen*;
Liver Diseases;
Liver Transplantation
- From:Pediatric Gastroenterology, Hepatology & Nutrition
2018;21(4):365-368
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
