The small molecule metabolome (< 1000 Da) defines a cell's phenotype on a moment-to-moment basis. Notably, the composition of the metabolome remains a biomedical frontier, since it is not predicted by other “omic” information (neither the genome, transcriptome nor proteome) and is only partially defined at present. Accordingly, tools for defining molecular structures, NMR and mass spectrometry (MS), have provided the essential platforms for current metabolomic studies. This presentation will describe the use of MS-based workflows for broad untargeted metabolite profiling. A proof-of-principal study will be described, showing that thousands of plasma metabolites can be effectively surveyed in a mouse model and metabolic consequences of a gene deletion or drug treatment can be specified. Additionally, the potential of untargeted metabolite profiling to screen neonatal plasma for rare inborn errors of metabolism will be considered and preliminary findings will be described.

Citation Information: Cancer Prev Res 2010;3(12 Suppl):ED01-02.