Glycogen Storage Disease Type IV

**Definition:** An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

**Tree numbers:** - C16.320.565.202.449.540 - C18.452.648.202.449.540

**Synonyms:** - Andersen Disease - Andersen's Disease - Brancher Deficiency - Deficiency, Brancher - Gbe1 Deficiency - Amylopectinosis - Glycogen Storage Disease Type 4 - Glycogenosis 4 - Glycogenosis IV - Type IV Glycogenosis - Glycogen Branching Enzyme Deficiency