Glycogen Storage Disease Type IV definition

Glycogen Storage Disease Type IV
Andersen's Disease; Deficiency, Brancher; Type IV Glycogenosis; Amylopectinoses; Andersens Disease; Brancher Deficiencies; Deficiencies, Brancher; Disease, Andersen; Disease, Andersen's; Glycogenosis, Type IV
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.