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

So Yoon Choi; Ben Kang; Jae Young Choe; Yoon Lee; Hyo Jeong Jang; Hyung-Doo Park; Suk-Koo Lee; Yon Ho Choe

doi:10.5223/pghn.2018.21.4.365

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

Pediatr Gastroenterol Hepatol Nutr. 2018 Oct;21(4):365-368. doi: 10.5223/pghn.2018.21.4.365. Epub 2018 Oct 10.

Authors

So Yoon Choi^{1

2}, Ben Kang^{1

3}, Jae Young Choe³, Yoon Lee^{1

4}, Hyo Jeong Jang⁵, Hyung-Doo Park⁶, Suk-Koo Lee⁷, Yon Ho Choe¹

Affiliations

¹ Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
² Department of Pediatrics, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.
³ Department of Pediatrics, School of Medicine, Kyungpook National University, Daegu, Korea.
⁴ Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
⁵ Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea.
⁶ Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
⁷ Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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.

Keywords: Andersen disease; Glycogen branching enzyme; Liver transplantation.

Publication types

Case Reports