ACYLCARNITINE REMOVAL IN A PATIENT WITH ACYL-COA BETA-OXIDATION DEFICIENCY DISORDER - EFFECT UF L-CARNITINE THERAPY AND STARVATION

Carnitine levels and acylcarnitine profiles in a patient with mild mul tiple acyl-CoA dehydrogenase deficient beta-oxidation were compared wi th control results, Whereas blood and urine total carnitine levels wer e moderately decreased, blood esterified carnitine levels in the patie nt were about 2-fold higher than in controls. Urinary acylcarnitine pr ofiles presented with a larger variety of carnitine esters than in con trols and included propionylcarnitine, butyrylcarnitine, 2-methylbutyr ylcarnitine, hexanoylcarnitine and octanoylcarnitine. Total carnitine levels in body fluids were similarly affected by chronic oral L-carnit ine administration in patient and controls, By contrast, esterified ca rnitine level increase was 2-fold more important in controls than in p atient. Whereas no qualitative changes in urinary acylcarnitine profil es were induced by L-carnitine therapy in controls, several alteration s of these profiles were observed in the patient. The effect of starva tion on metabolites was also studied, especially beta-oxidation rates assessed by free fatty acids to 3-hydroxybutyric acid ratios in blood from the patient in the untreated and L-carnitine treated states. In t he L-carnitine-supplemented patient, the effect of starvation on the t ime course of carnitine levels and acylcarnitine profiles could also b e documented. The ability of chronic oral L-carnitine administration t o remove relatively less important amounts of acylcarnitines in the pa tient than in controls is further discussed, as well as qualitative al terations of acylcarnitine profiles induced by this therapy in the pat hological condition.