Metabolomics, i.e. the systematic identification and quantitation of marker metabolites in a given compartment, cell, tissue or body fluid, is increasingly recognized as the most relevant approach to depicting the functional end-points of physiological and pathophysiological processes. Yet, a reliable and standardized technology platform rendering metabolomics applicable to routine diagnostics has not been in place so far.

Recent innovations in analytical technologies and more than a decade of clinical experience in mass spectrometry-based neonatal screening for inborn disorders of metabolism now allowed to establish an integrated metabolomics platform consisting of proprietary automated sample preparation procedures, quantitative tandem mass spectrometry, and innovative bioinformatics tools for process control, technical validation, statistical analysis and biochemical interpretation of metabolic data.

Numerous projects have demonstrated the huge potential of comprehensive metabolomics in identifying and validating novel biomarkers for early diagnosis and mechanistic understanding of complex diseases. This presentation will summarize recent findings on biomarker candidates in the Metabolic Syndrome / Diabetes mellitus type II and discuss their potential role in diagnostics. Particular focus will be set on increased sensitivity and specificity achieved by multiparametric biomarkers, on (analytically simple) surrogate markers for complex biological phenomena, and on future links to theranostics approaches.