CARNITINE PALMITOYLTRANSFERASE DEFICIENCY - AN UNDERDIAGNOSED CONDITION

Two apparently healthy adults were admitted because of acute muscle cr amps, severe weakness, and red urine excretion. Patient No. 1 develope d the symptoms following intense exercise and patient No. 2 during a f ebrile infection. Both of them experienced such episodes in the past, but these were medically misinterpreted. Their present manifestations were accompanied by renal failure which subsided gradually and was fou nd to be a result of rhabdomyolsis and myoglobinuria. Further investig ations yielded a deficiency of carnitine palmitoyltransferase as a bac kground to the acute muscular destruction. Examination of a sister of patient No. 2 who had a similar past history revealed the same metabol ic disorder. Carnitine palmitoyltransferase deficiency, as a cause of nontraumatic rhabdomyolysis, is a distinct entity in the pathogenesis of acute renal failure. Our experience (3 patients within 2 years) mak es us presume that this condition is not as rare as hitherto reported and should rather be considered in cases of 'nonhematuric' red urine a nd acute renal failure.