glycogen storage disease IV

glycogen storage disease IV

Andersen disease, brancher deficiency, brancher disease, amylopectinosis, glycogen branching enzyme deficiency An AR metabolic disorder, caused by an absence of α-1,4-glucan:α-1,4-glucan 6-glucosyltransferase, the 'brancher' enzyme, resulting in muscle weakness, especially of the tongue, hepatosplenomegaly, hepatic fibrosis, followed by cirrhosis, ascites, early death with normal mental development Clinical Growth failure, hypoglycemia, lactic acidosis, oral and anal lesions, IBD, neutropenia, ↓ neutrophil chemotaxis and metabolism Treatment Liver transplantation ameliorates the pancellular enzyme deficiencies by mechanism of microchimerism; GSD IV responds to liver transplantation with ↓ deposition of amylopectin in liver and ↓ neuromuscular or cardiac morbidity due to extrahepatic amylopectin deposits. Cf Debranching enzyme.
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