The remarkable high prevalence of homozygosity for ACADS mutations were observed in the general population, with frequencies of approximately 5.5% for c.625G > A and 0.3% for c.511C > T (Nagan et al., 2003; van Maldegem et al., 2005) because most patients with SCAD deficiency are homozygous or compound heterozygous for one of the two common mutations, or they harbor one of them in combination with a rare mutations in ACADS gene (Gregersen et al., 1998; Gregersen et al., 2000; Corydon et al., 2001; Gallant et al., 2012; Tonin et al., 2016). The gene discussed is ACADS; the disease is short chain acyl-CoA dehydrogenase deficiency.