Notably, this study reported three unreported mutations in three genes (ACADM, ACADS, and HLCS) [c.893G>A (p.R298K), c.482G>A (p.S161N), and c.1544G>A (p.S515)] (Table 5) The three genes were derived from three diseases (SCADD, MCADD, and HCSD), and all of them were compound heterozygous mutations. The gene discussed is ACADS; the disease is medium chain acyl-CoA dehydrogenase deficiency.