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.
do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis
Other names Glycogenosis 4; Brancher Deficiency; Andersen Disease; Amylopectinosis; Type IV Glycogenoses; Glycogenosis, Type IV; Glycogenosis 4s; Glycogenoses, Type IV; Disease, Andersen's; Disease, Andersen; Deficiencies, Brancher; Brancher Deficiencies; Andersens Disease; Amylopectinoses; Type IV Glycogenosis; Glycogen Storage Disease Type 4; Glycogen Branching Enzyme Deficiency; Deficiency, Brancher; Andersen's Disease
Substance
CAS Registry & name
Categories
Source
Cirrhosis, familial, with deposition of abnormal glycogen
