The mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects diagnosed in our patient cohort were VLCAD (n = 5), LCHAD (n = 4), CACT (n = 3), MAD (n = 1), CPT-I (n = 13), CPT-II (n = 3) deficiencies and CTD (n = 9). The gene discussed is CPT2; the disease is very long chain acyl-CoA dehydrogenase deficiency.