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

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

Department of Medicine

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English
Pages (from-to)	365-368
Number of pages	4
Journal	Pediatric Gastroenterology, Hepatology and Nutrition
Volume	21
Issue number	4
DOIs	https://doi.org/10.5223/pghn.2018.21.4.365
State	Published - 1 Oct 2018

Keywords

Andersen disease
Glycogen branching enzyme
Liver transplantation

Access to Document

10.5223/pghn.2018.21.4.365

Cite this

@article{d828e1a250a7461b9528c4455472c438,

title = "A case of glycogen storage disease IV with rare homozygous mutations in the glycogen branching enzyme gene",

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",

author = "Choi, {So Yoon} and Ben Kang and Choe, {Jae Young} and Yoon Lee and Jang, {Hyo Jeong} and Park, {Hyung Doo} and Lee, {Suk Koo} and Choe, {Yon Ho}",

note = "Publisher Copyright: {\textcopyright} 2018 by The Korean Society of Pediatric Gastroenterology.",

year = "2018",

month = oct,

day = "1",

doi = "10.5223/pghn.2018.21.4.365",

language = "English",

volume = "21",

pages = "365--368",

journal = "Pediatric Gastroenterology, Hepatology and Nutrition",

issn = "2234-8646",

publisher = "Korean Society of Pediartic Gastroenterology, Hepatology and Nutrition",

number = "4",

}

TY - JOUR

T1 - A case of glycogen storage disease IV with rare homozygous mutations in the glycogen branching enzyme gene

AU - Choi, So Yoon

AU - Kang, Ben

AU - Choe, Jae Young

AU - Lee, Yoon

AU - Jang, Hyo Jeong

AU - Park, Hyung Doo

AU - Lee, Suk Koo

AU - Choe, Yon Ho

PY - 2018/10/1

Y1 - 2018/10/1

N2 - 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.

AB - 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.

KW - Andersen disease

KW - Glycogen branching enzyme

KW - Liver transplantation

UR - http://www.scopus.com/inward/record.url?scp=85054667694&partnerID=8YFLogxK

U2 - 10.5223/pghn.2018.21.4.365

DO - 10.5223/pghn.2018.21.4.365

M3 - Article

AN - SCOPUS:85054667694

SN - 2234-8646

VL - 21

SP - 365

EP - 368

JO - Pediatric Gastroenterology, Hepatology and Nutrition

JF - Pediatric Gastroenterology, Hepatology and Nutrition

IS - 4

ER -

A case of glycogen storage disease IV with rare homozygous mutations in the glycogen branching enzyme gene

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this