New metabolites in isovaleric acidemia.
Two metabolites, 4-hydroxyisovaleric acid and mesaconic acid, have been identified and quantified in the urine of a patient with isovaleric acidemia. These compounds do not appear to have been reported previously as being components of human metabolism. In addition, large quantities of 3-methylbutyrolactone, the lactone of 4-hydroxyisovaleric acid, were observed in the volatile profile obtained by headspace chromatography. The demonstration of 4-hydroxyisovaleric acid supports the contention that urinary methylsuccinic acid seen in patients with isovaleric acidemia has arisen by omega-oxidation of isovaleric acid. The identification of mesaconic acid may indicate that the methylsuccinic acid formed in these patients is subject to further metabolism.
D015107:4-Butyrolactone / Q000031:analogs & derivatives / Q000652:urine; D055598:Chemical Phenomena; D002621:Chemistry; D008401:Gas Chromatography-Mass Spectrometry; D045782:Hemiterpenes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008298:Maleates / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000652:urine*; D010421:Pentanoic Acids; D014631:Valerates / Q000097:blood / Q000378:metabolism* / Q000652:urine
D045782:Hemiterpenes; D008298:Maleates; D010421:Pentanoic Acids; D014631:Valerates; C030033:3-methylbutyrolactone; C008216:isovaleric acid; C030032:4-hydroxyisovaleric acid; D015107:4-Butyrolactone