Short chain acyl-CoA dehydrogenase deficiency
ORPHA:26792· ICD-10 E71.3
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal