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Carnitine palmitoyltransferase deficiency: an underdiagnosed condition?

Two apparently healthy adults were admitted because of acute muscle cramps, severe weakness, and red urine excretion. Patient No. 1 developed the symptoms following intense exercise and patient No. 2 during a febrile 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 found to be a result of rhabdomyolsis and myoglobinuria. Further investigations yielded a deficiency of carnitine palmitoyltransferase as a background to the acute muscular destruction. Examination of a sister of patient No. 2 who had a similar past history revealed the same metabolic 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) makes us presume that this condition is not as rare as hitherto reported and should rather be considered in cases of 'nonhematuric' red urine and acute renal failure.