ABSTRACT
Short-chain acyl CoA dehydrogenase (SCAD) deficiency is an autosomal recessive short-chain fatty acid oxidation disorder. An estimated birth prevalence of 1:33,000–1:50,000 was reported, based on high C4-carnitine levels on newborn screening, and the presence of acyl-CoA dehydrogenases (ACADs) gene mutations on both alleles. SCAD is a member of the ACAD family of mitochondrial enzymes of the fatty acid ß-oxidation pathway. The majority of patients with SCAD deficiency are homozygotes or compound heterozygotes for two of the common ACADS gene variants or have a combination of these variants on one allele, with an inactivating mutation on the other allele. In contrast to the other ACAD deficiencies, which are more likely to present with hypoketotic hypoglycemia, hepatic or cardiac dysfunction, the clinical features of SCAD are predominantly neurological.
