Thus, SCADD has been biochemically defined as the presence of an increased level of C4-acylcarnitine in plasma and/or increased EMA excretion in urine under non-stressful conditions in at least two measured samples and genetically as the occurrence of biallelic pathogenic variants or one pathogenic variant in the trans position, with susceptibility variants c.625G>A or c.511C>T in the ACADS gene. The gene discussed is ACADS; the disease is short chain acyl-CoA dehydrogenase deficiency.