The three polymorphisms found in CPT2 gene and in the studied patients [c.1102 G>A (p.V368I)] (heterozygous), [c.1102 G>A (p.V368I)] (homozygous), and [c.1055 T>G (p.F352C)] (heterozygous) + [c.1102 G>A (p.V368I)] (homozygous) matched the mutations previously reported in late-onset muscular, infantile/juvenile hepatic, and severe neonatal phenotypes of CPT II deficiency. The gene discussed is CPT2; the disease is carnitine palmitoyltransferase II deficiency.