异戊酸血症中的新代谢产物。

New metabolites in isovaleric acidemia.

作者信息

Truscott R J, Malegan D, McCairns E, Burke D, Hick L, Sims P, Halpern B, Tanaka K, Sweetman L, Nyhan W L, Hammond J, Bumack C, Haan E A, Danks D M

出版信息

Clin Chim Acta. 1981 Mar 5;110(2-3):187-203. doi: 10.1016/0009-8981(81)90348-x.

DOI:10.1016/0009-8981(81)90348-x

PMID:6452974

Abstract

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.

摘要

在一名异戊酸血症患者的尿液中，已鉴定并定量出两种代谢物，即4-羟基异戊酸和甲基丙烯酸。这些化合物此前似乎并未被报道为人体代谢的组成部分。此外，在顶空气相色谱法获得的挥发性成分中，观察到了大量的4-羟基异戊酸内酯3-甲基丁内酯。4-羟基异戊酸的证实支持了以下观点，即异戊酸血症患者尿液中所见的甲基琥珀酸是由异戊酸的ω-氧化产生的。甲基丙烯酸的鉴定可能表明这些患者体内形成的甲基琥珀酸会进一步代谢。