Orphanet: Short chain acyl CoA dehydrogenase deficiency

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Short chain acyl-CoA dehydrogenase deficiency

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • ACADS deficiency
    • SCAD deficiency
    • SCADD
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: E71.3
  • OMIM: 201470
  • UMLS: -
  • MeSH: C537596
  • GARD: 4822
  • MedDRA: -

Detailed information


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