Short chain acyl-CoA dehydrogenase deficiency

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Short chain acyl-CoA dehydrogenase deficiency

Synonyms: ACADS deficiency | SCAD deficiency | SCADD

Short-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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Short chain acyl-CoA dehydrogenase deficiency?

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