Acute renal failure due to carnitine palmitoyltransferase deficiency.
A young, apparently healthy, soldier developed acute muscle weakness and rhabdomyolysis following prolonged exercise. The resultant myoglobinuria caused severe acute renal failure. Further investigation revealed the presence of carnitine palmitoyltransferase deficiency as the cause of the rhabdomyolysis. Renal function subsequently returned to normal. This rare metabolic disorder should be considered in cases of unexplained myoglobinuria and renal failure.
Berkman
N
N
Division of Internal Medicine, Hadassah University Hospital, Jerusalem, Israel.
Meirow
D
D
Katzir
Z
Z
Bar-On
H
H
D058186:Acute Kidney Injury / Q000209:etiology*; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D008297:Male; D008889:Military Personnel; D009212:Myoglobinuria / Q000209:etiology; D012206:Rhabdomyolysis / Q000209:etiology
D002334:Carnitine O-Palmitoyltransferase