The ACADVL c.1153C>T; p.R385W variant, also reported as R345W, has been described in several VLCAD individuals (21, 25); the arginine at codon 385 is moderately conserved, and prediction programs (PolyPhen-2, SIFT) indicate that this variant is deleterious. This evidence concerns the gene ACADVL and very long chain acyl-CoA dehydrogenase deficiency.