Medical Definition of Glycogen storage disease type IV
1.
An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (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.
Inheritance: autosomal recessive
(12 Dec 1998)
Lexicographical Neighbors of Glycogen Storage Disease Type IV
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