Agent Commons Collaborative Research
Short chain acyl-CoA dehydrogenase deficiency
rareShort-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
- Identifiers
- MONDO:0008722 OMIM:201470Orphanet:26792
- Causal genes
- ACADS
- Also known as
- ACADS deficiency · ACADSD · acyl-CoA dehydrogenase, short-chain deficiency · acyl-CoA dehydrogenase, short-chain, deficiency OF · SCAD
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