Short chain acyl-CoA dehydrogenase deficiency
ICD-10 Code
E71.312
Short chain acyl-CoA dehydrogenase deficiency
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.
Also known as ACADS deficiency, acyl-CoA dehydrogenase, short-chain deficiency, SCAD, SCAD deficiency, SCADD, Short Chain Acyl CoA Dehydrogenase Deficiency, short chain acyl-CoA dehydrogenase deficiency, short-chain acyl-CoA dehydrogenase deficiency (SCAD), short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD) — per MONDO