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glycogen storage disease type IV
Used for:
amylo 1,4:1,6 transglucosidase deficiency
Used for:
amylopectinosis
Used for:
Andersen's disease
Used for:
brancher deficiency
Used for:
brancher deficiency glycogenosis
Used for:
brancher glycogen storage disease
Used for:
glycogenosis type IV
Broader Terms:
glycogen storage disease
Scope Note:
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.
Term Number:
1849-3950
Send your comments to: Melody Lowe