Metabolomics is one of the most recent trends in the "omics" era that investigates the end products of an organism activity, that is, all metabolites in a biological system, which are small molecules (less than 1000 Da) from different chemical classes. Metabolomics represents a tool to assess the biochemical activity of a living system through the analysis of substrates and products processed during the metabolism. The analysis of the metabolic profile (nontargeted analysis, i.e. a comparison between samples profiles of individuals) and of specific metabolites (targeted analysis, which quantifies a selected group of metabolites) in biological samples provides an insight into the metabolic state and the biochemical processes of the organism and, therefore, may indicate the onset and the stage of different diseases. An early and accurate diagnosis is essential for successful treatment and probable cure of most illnesses; hence, the investigation of metabolites as disease biomarkers has increased considerably in recent years. This review aims to present the most relevant works that address the nontargeted and targeted analysis of metabolites in different diseases for the past 10 years, including kidney and neurological disorders, cardiovascular diseases, diabetes, and cancer, using CE and LC coupled with the accurate detection of mass spectroscopy.

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