Carnitine is an essential cofactor in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Carnitine is metabolized from lysine, trimethyllysine and butyrobetaine. Butyrobetaine undergoes hydroxylation in the liver, brain and kidney to form carnitine which in turn is transported via the plasma to the heart and skeletal muscle where it is important for allowing beta oxidation of fatty acids. Three clinical forms of carnitine deficiency have been described: myopathic, systemic and mixed forms. Carnitine deficiency results in accumulation of neutral lipid within skeletal muscle, myocardium and liver. Ultrastructurally, myofibrils are disrupted and there is an accumulation of large aggregates of mitochondria and lipid deposits within the skeletal muscle and myocardium. Carnitine therapy has been effective in the treatment of the myopathic and some cases of systemic and mixed forms. Several syndromes of secondary carnitine deficiency have been described; these may be secondary to genetic defects of intermediary metabolism and to other conditions, particularly following hemodialysis.