Abstract

Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme(GBE). The clinical spectrum is wide ranging from isolated non-progressive hepathopathy, neuromuscular disorders with variable age of onset, to the adult polyglucosan body disease. We report a five month old female patient with GSD who presented with conjunctival jaundice and hepatomegaly. A liver biopsy showed the presence of material with histochemical and ultrastructural characteristics consistent with amylopectin. Measurement of glycogen quantity in the red blood cells showed increasead storage of glycogen. Biochemical analysis demonstrated severely reduced branching enzyme activity

Key words: Glycogen storage disease, glycogen branching enzyme, liver transplantation