Department of Chemistry, University of Calabria, Arcavacata di Rende, Cosenza, Italy.
J Nephrol. 2010 Nov-Dec;23 Suppl 16:S213-20.
High resolution proton magnetic resonance spectroscopy (1H-NMR) of body fluids coupled with multivariate data analysis has led to a new science known as metabonomics. Metabonomics is a powerful tool for investigating any disturbance in the normal homeostasis of biochemical processes. In particular, urine metabonomics provides information on the metabolite phenotype of the human being and is therefore appropriate to study the status of the global system. Here we applied 1H-NMR-based urinary metabonomics in a perspective study of the inherited lysosomal storage disorder known as Fabry disease, starting from the metabolite profiling of urine samples of male and female naïve Fabry subjects. Here we show that the 2 groups of patients can be fairly clearly separated into 2 classes due to statistically significant differences in the urinary level of some metabolites. This preliminary study shows that metabonomics can potentially be used for characterizing the biochemical mechanisms underlying the disease and, hopefully, for early diagnosis of Fabry disease.
基于高分辨率质子磁共振波谱（1H-NMR）的体液分析与多元数据分析相结合，形成了一门新的科学，称为代谢组学。代谢组学是研究生物化学过程正常动态平衡任何干扰的有力工具。特别是，尿液代谢组学提供了关于人类代谢产物表型的信息，因此适合研究整体系统的状态。在这里，我们应用基于 1H-NMR 的尿液代谢组学方法，从男性和女性幼稚型 Fabry 患者的尿液样本的代谢物图谱分析开始，对遗传性溶酶体贮积症 Fabry 病进行了前瞻性研究。我们发现，由于一些代谢物在尿液水平上存在统计学上的显著差异，这 2 组患者可以被非常清晰地分为 2 类。这项初步研究表明，代谢组学有可能用于描述疾病背后的生化机制，并有望用于 Fabry 病的早期诊断。
