Glycogen Storage Disease Type IV
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Glycogen Storage Disease 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.
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