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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Autores principales: Choi, So Yoon, Kang, Ben, Choe, Jae Young, Lee, Yoon, Jang, Hyo Jeong, Park, Hyung-Doo, Lee, Suk-Koo, Choe, Yon Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182483/
https://www.ncbi.nlm.nih.gov/pubmed/30345254
http://dx.doi.org/10.5223/pghn.2018.21.4.365
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author Choi, So Yoon
Kang, Ben
Choe, Jae Young
Lee, Yoon
Jang, Hyo Jeong
Park, Hyung-Doo
Lee, Suk-Koo
Choe, Yon Ho
author_facet Choi, So Yoon
Kang, Ben
Choe, Jae Young
Lee, Yoon
Jang, Hyo Jeong
Park, Hyung-Doo
Lee, Suk-Koo
Choe, Yon Ho
author_sort Choi, So Yoon
collection PubMed
description 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.
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spelling pubmed-61824832018-10-19 A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene Choi, So Yoon Kang, Ben Choe, Jae Young Lee, Yoon Jang, Hyo Jeong Park, Hyung-Doo Lee, Suk-Koo Choe, Yon Ho Pediatr Gastroenterol Hepatol Nutr Case Report 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. The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2018-10 2018-10-10 /pmc/articles/PMC6182483/ /pubmed/30345254 http://dx.doi.org/10.5223/pghn.2018.21.4.365 Text en Copyright © 2018 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition http://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Choi, So Yoon
Kang, Ben
Choe, Jae Young
Lee, Yoon
Jang, Hyo Jeong
Park, Hyung-Doo
Lee, Suk-Koo
Choe, Yon Ho
A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
title A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
title_full A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
title_fullStr A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
title_full_unstemmed A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
title_short A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
title_sort case of glycogen storage disease iv with rare homozygous mutations in the glycogen branching enzyme gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182483/
https://www.ncbi.nlm.nih.gov/pubmed/30345254
http://dx.doi.org/10.5223/pghn.2018.21.4.365
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