Primary Carnitine Deficiency (PCD) is characterized by a low concentration of plasma and tissue carnitine [12,13] due to recessive mutations in Solute Carrier Family 22 Member 5 (SLC22A5) gene which encodes Organic Cation/Carnitine Transporter 2 (OCTN2) [14]. The gene discussed is SLC22A5; the disease is systemic primary carnitine deficiency disease.