Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

ABSTRACT: Global metabolic profiling currently achievable by untargeted mass spectrometry-based metabolomic platforms has great potential to advance our understanding of human disease states, including potential utility in the detection of novel and known inborn errors of metabolism (IEMs). There are few studies of the technical reproducibility, data analysis methods, and overall diagnostic capabilities when this technology is applied to clinical specimens for the diagnosis of IEMs. We explored the clinical utility of a metabolomic workflow capable of routinely generating semi-quantitative z-score values for ~900 unique compounds, including ~500 named human analytes, in a single analysis of human plasma. We tested the technical reproducibility of this platform and applied it to the retrospective dia

SUBMITTER: Miller MJ 

PROVIDER: S-EPMC4626538 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature