Acute renal failure due to carnitine palmitoyltransferase II deficiency

Abstract

Carnitine palmitoyltransferase II (CPT-II) deficiency is the most common long-chain fatty acid oxidation defect, resulting in rhabdomyolysis and acute renal failure (ARF). There are three forms of CPT-II deficiency: the neonatal, infantile and adult form. We report an adult form of CPT-II deficiency in a patient who presented with attacks of exercise-induced rhabdomyolysis and ARF.