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Amylopectinosis

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.