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

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

• Choi SY
• Kang B
• Choe JY
• Lee Y
• Jang HJ
• Park HD
• Lee SK
• Choe YH

• KMID: 2422003
• DOI: http://doi.org/10.5223/pghn.2018.21.4.365

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.

Keyword

Andersen disease; Glycogen branching enzyme; Liver transplantation

MeSH Terms

1,4-alpha-Glucan Branching Enzyme*
Clinical Coding
Glycogen Storage Disease Type IV
Glycogen Storage Disease*
Glycogen*
Liver Diseases
Liver Transplantation
1,4-alpha-Glucan Branching Enzyme
Glycogen

Figure

• 

  Fig. 1 Liver biopsy revealed micronodular cirrhosis with marked intracytoplasmic glycogen deposits. (A) H&E stain, ×100; (B) Masson's trichrome stain, ×400; (C, D) Periodic acid-Schiff (PAS)/D-PAS stain, ×400.

• 

  Fig. 2 Molecular analysis of the GBE1 gene revealed homozygous mutations of c.791G>A (p.Gly264Glu).

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