A novel GBE1 gene variant in a child with glycogen storage disease type IV

Samar M. Said, Marine I. Murphree, Taofic Mounajjed, Mounif El-Youssef, Lizhi Zhang

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system. More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described. In this study, we report a 2-year-old boy who presented with developmental delay and muscle weakness. He subsequently was diagnosed with glycogen storage disease type IV based on a liver biopsy histology and electron microscopy. Glycogen branching enzyme activity was in the low range. Genetic analysis demonstrated a novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene, which is believed to be pathogenic. This variant was inherited from the patient's mother who was asymptomatic with normal glycogen branching enzyme activity. Whole-exome sequencing failed to reveal additional variations in the GBE1 gene.

Original languageEnglish (US)
Pages (from-to)152-156
Number of pages5
JournalHuman Pathology
Volume54
DOIs
StatePublished - Aug 1 2016

Keywords

  • Glycogen branching enzyme
  • Glycogen storage disease
  • Hepatocyte inclusions
  • Liver biopsy
  • Novel GBE1 variant

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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