Glycogen storage disease due to glycogen debranching enzyme deficiency (Q84785): Difference between revisions

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Latest revision as of 10:08, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_530430134
English	Glycogen storage disease due to glycogen debranching enzyme deficiency	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.