acyl-CoA dehydrogenase short-chain deficiency

acyl-CoA dehydrogenase short-chain deficiency

An autosomal recessive disorder (OMIM:201470) resulting in acute acidosis and muscle weakness in infants and a form of lipid-storage myopathy in adults.

Molecular pathology
Defects in ACADS cause ACADSD.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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