Glycogen Storage Disease Type IV
Glycogen Branching Enzyme Deficiency
Glycogen Storage Disease Type 4
Glycogenoses, Type IV
Glycogenosis, Type IV
Type IV Glycogenoses
Type IV Glycogenosis
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.