In humans, CPT II deficiency causes several autosomal recessive disorders: a myopathic form with adult onset (type 1) characterized by skeletal muscle weakness and myoglobinuria; a severe life-threatening infantile form (type 2) with hypoketotic hypoglycemia and cardiomyopathy; and a fatal neonatal form with organ abnormalities (type 3) (Corti et al, 2008). Here, CPT2 is linked to cardiomyopathy.