NA: Not available (reported to be normal), M: male, F: female, y: years, m: months d: days, CPT-1: carnitine palmitoyltransferase I, CPT-2: carnitine palmitoyltransferase II, PCD: primary carnitine deficiency and OCTN2: organic cation/carnitine transporter 2, C0: free carnitine, C2: acetylcarnitine, C16: palmitoylcarnitine, C18: stearoylcarnitine, C18:1: oleoylcarnitine, CPT1 Ratio: C0 / (C16 + C18); CPT2 Ratio: (C16 + C18:1) / C2. The gene discussed is SLC22A5; the disease is systemic primary carnitine deficiency disease.