Glycogen Storage Disease Type IV D006011

Description

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.   MeSH

Phase 2 Indicated Drugs (2)


Organization Involved with Phase 2 Indications (2)

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