acyl-CoA dehydrogenase—short chain—deficiency of

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acyl-CoA dehydrogenase—short chain—deficiency of2016-11-24T13:59:25+00:00

acyl-CoA dehydrogenase—short chain—deficiency of

METABOLISM

Definition Acyl-CoA dehydrogenase—short chain—deficiency of is an autosomal recessive (OMIM:201470) metabolic disorder due to a defect in the mitochondrial fatty acid beta-oxidation pathway, resulting in acute acidosis and muscle weakness in infants, and lipid-storage myopathy in adults.

Molecular pathology Defects in ACADS, which encodes a flavoprotein that catalyses the first step of the mitochondrial fatty acid beta-oxidation pathway, cause acyl-CoA dehydrogenase—short chain—deficiency of. 

Synonyms ACADS deficiency, ACADSD, lipid storage myopathy secondary to short chain acyl-CoA dehydrogenase deficiency, SCADH deficiency, SCAD deficiency 

References http://www.uniprot.org/uniprot/P16219

http://www.omim.org/entry/201470

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