Perspectives of 1H-NMR-based urinary metabonomics in Fabry disease.

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.