Carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase II deficiency, often shortened to CPT-II or CPT2, is an inherited metabolic disorder passed on in an autosomal recessive pattern. The enzyme defect stops long-chain fatty acids from being carried into the mitochondria, where they would otherwise be used as an energy source. It appears in three clinical forms: a lethal neonatal form, a severe infantile form affecting the liver, heart and muscle, and a myopathic form. The adult myopathic form was first characterized in 1973 by DiMauro and DiMauro, is triggered by strenuous exercise or long periods without food, and causes severe muscle fatigue and pain. It is the commonest inherited disorder of lipid metabolism affecting adult skeletal muscle and the most frequent cause of hereditary myoglobinuria.