Most patients with SCAD deficiency carry two mutation alleles of the two common variants, or harbor one of them in combination with a rare variant in ACADS gene (van Maldegem et al., 2010), and the hotspot in Ashkenazi Jewish patients is a pathogenic c.319C > T mutation (Tein et al., 2008). Here, ACADS is linked to short chain acyl-CoA dehydrogenase deficiency.