Short-Chain Acyl-CoA Dehydrogenase Deficiency (ACADS)
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive disorder of fatty acid metabolism caused by pathogenic variants in the gene ACADS. There are two main types of this disorder, a more severe type that is typically observed in infancy and more mild type that is typically observed in adulthood. Infants typically present with acute acidosis, vomiting, low blood sugar, failure to thrive, seizures, developmental delay, microcephaly (small head size), and hypotonia. Adults with this disorder typically have symptoms of muscle weakness and wasting. The severity of this condition varies widely, even amongst members of the same family, and some individuals never develop any symptoms of the condition. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.