Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. Global metabolic profiling obtained by untargeted mass spectrometry-based metabolomic platform for the detection of novel and known inborn errors of metabolism. This untargeted approach collected z-score values for ~1200 unique compounds (including ~500 named human analytes) from human plasma. Data set contains 186 individual plasma samples (118 confirmed inborn errors of metabolism). The outcome describes excellent sensitivity and specificity for the detection of a wide rage of metabolic disorders and identified novel biomarkers for some diseases.
data(Miller2015)Miller2015 - The data frame with 1203 metabolite features as rows, and 186 untargeted metabolomics patient samples as columns, alongside 16 metabolite annotations. The first row also provides the biochemical diagnosis confirmed for each patient sample.
Miller et al. (2015). Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis, 38: 1029–1039. <doi:10.1007/s10545-015-9843-7>