在3-甲基戊二酸尿症中对3-甲基戊二酰肉碱和一种新的二羧酸共轭物——3-甲基戊烯二酰肉碱的检测。

The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria.

作者信息

Jooste S, Erasmus E, Mienie L J, de Wet W J, Gibson K M

机构信息

Department of Biochemistry, Potchefstroom University for Christian Higher Education, South Africa.

出版信息

Clin Chim Acta. 1994 Oct 14;230(1):1-8. doi: 10.1016/0009-8981(94)90083-3.

DOI:10.1016/0009-8981(94)90083-3

PMID:7850987

Abstract

Two patients, diagnosed with 3-methylglutaconic aciduria, who presented with diverse clinical and metabolic manifestations, were studied. Glycine conjugation as a possible detoxification mechanism in these two patients yielded negative results. Carnitine conjugates were however detected. 3-Methylglutarylcarnitine was observed in the urine of both patients, while one of the patients excreted detectable quantities of 3-methylglutaconylcarnitine, a previously unknown metabolite. The presence of this metabolite in urine samples from one patient and the apparent correlation between administered carnitine and the conjugate excretion profile seems to indicate that carnitine may play an important role in future therapeutic programmes.

摘要

对两名被诊断为3-甲基戊二酸尿症的患者进行了研究，这两名患者表现出不同的临床和代谢表现。在这两名患者中，作为一种可能的解毒机制的甘氨酸结合产生了阴性结果。然而，检测到了肉碱共轭物。在两名患者的尿液中均观察到3-甲基戊二酰肉碱，而其中一名患者排泄出可检测量的3-甲基戊烯二酰肉碱，这是一种以前未知的代谢物。在一名患者的尿液样本中存在这种代谢物，以及所给予的肉碱与共轭物排泄谱之间明显的相关性，似乎表明肉碱可能在未来的治疗方案中发挥重要作用。