Acute renal failure due to carnitine palmitoyltransferase II deficiency.
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.
Uzel
B
B
Department of Internal Medicine, Cerrahpaşa Faculty of Medicine, Istanbul University, Istanbul, Turkey. uzel@ixir.com
Altiparmak
M R
MR
Ataman
R
R
Serdengeçti
K
K
D058186:Acute Kidney Injury / Q000209:etiology* / Q000503:physiopathology; D000465:Algorithms; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D003937:Diagnosis, Differential; D017079:Exercise Tolerance; D006801:Humans; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D012206:Rhabdomyolysis / Q000209:etiology* / Q000503:physiopathology
D002334:Carnitine O-Palmitoyltransferase