ACADL and very long chain acyl-CoA dehydrogenase deficiency: P12 is homozygote for the NM_000018.4:c.1246G > A p.(Ala416Thr) variant in the very long-chain acyl-CoA dehydrogenase gene (ACADVL *609575), which is associated with VLCAD deficiency (ACADVLD; MIM # 201475) (see supplementary clinical description).