Glycogen storage disease due to glycogen debranching enzyme deficiency (Q84785)

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterised by severe muscle weakness and hepatopathy. Children present with hepatomegaly, growth retardation and occasional seizures related to hypoglycaemia. Hepatomegaly may disappear with adulthood. Muscle weakness is slowly progressive. Other frequently associated signs include muscular hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except in the few cases where cirrhosis or myopathy appears.