ACADVL and very long chain acyl-CoA dehydrogenase deficiency: The variant c.753-2A>C (p.Asn252_His293del) is a common variant in Italian VLCADD patients, and incorrect splicing leads to the degradation of VLCAD mRNA, so we infer that c.553G>A (p.Gly185Ser) should not cause a severe phenotype.