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 language | English (US) |
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Pages (from-to) | 152-156 |
Number of pages | 5 |
Journal | Human Pathology |
Volume | 54 |
DOIs | |
State | Published - 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