EP035: Genotype-phenotype correlation of glycogen storage disease type IV

Abstract

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disease caused by glycogen branching enzyme deficiency, encoded by GBE1. The deficiency results in variable clinical features, age of onset, and disease severity. GSD IV is arbitrarily divided into several subtypes based on the continuum of symptoms. The most common Classic Hepatic subtype presents in the first few months of life with hepatomegaly, followed by rapid deterioration into cirrhosis and lethal liver failure requiring liver transplant.