Glycogen Storage Disease Type IV. Andersen's Disease . Deficiency, Brancher . Gbe1 Deficiency . Glycogen Branching Enzyme Deficiency . Glycogen Storage Disease Type 4 . Glycogenosis IV . Type IV Glycogenosis . Amylopectinoses . Andersens Disease . Brancher Deficiencies . Deficiencies, Brancher . Deficiencies, Gbe1 . Deficiency, Gbe1 . Disease, Andersen . Disease, Andersen's . Gbe1 Deficiencies . Glycogenoses, Type IV . Glycogenosis 4s . Glycogenosis IVs . Glycogenosis, Type IV . Type IV Glycogenoses . Amylopectinosis . Andersen Disease . Brancher Deficiency . Glycogenosis 4 . 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. . 0.81
Glycogen Debranching Enzyme System. Debranching Enzyme, Glycogen . Enzyme, Glycogen Debranching . Transfer Glucosidase . Glycogen Debranching Enzyme . Transfer-Glucosidase . 1,4-alpha-D-Glucan-1,4-alpha-D-glucan 4-alpha-D-glucosyltransferase/dextrin 6 alpha-D-glucanohydrolase. An enzyme system having both 4-alpha-glucanotransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) activities. As a transferase it transfers a segment of a 1,4-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or another 1,4-alpha-D-glucan. As a glucosidase it catalyzes the endohydrolysis of 1,6-alpha-D-glucoside linkages at points of branching in chains of 1,4-linked alpha-D-glucose residues. Amylo-1,6-glucosidase activity is deficient in glycogen storage disease type III. . 0.78
