THE DETECTION OF 3-METHYLGLUTARYLCARNITINE AND A NEW DICARBOXYLIC CONJUGATE, 3-METHYLGLUTACONYLCARNITINE, IN 3-METHYLGLUTACONIC ACIDURIA

Two patients, diagnosed with 3-methylglutaconic aciduria, who presente d with diverse clinical and metabolic manifestations, were studied. Gl ycine conjugation as a possible detoxification mechanism in these two patients yielded negative results. Carnitine conjugates were however d etected. 3-Methylglutarylcarnitine was observed in the urine of both p atients, while one of the patients excreted detectable quantities of 3 -methylglutaconylcarnitine, a previously unknown metabolite. The prese nce of this metabolite in urine samples from one patient and the appar ent correlation between administered carnitine and the conjugate excre tion profile seems to indicate that carnitine may play an important ro le in future therapeutic programmes.