A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Global metabolic profiling obtained by untargetedmass spectrometry-based metabolomic platform for the detectionof novel and known inborn errors of metabolism. This untargeted approach collected z-score values for >650 unique compounds fromhuman plasma. Data set contains 19 individual plasma samples with confirmed biallelic pathogenic variants in the PEX1 gene. These samples revealed elevations in pipecolic acid and long-chain lysophosphatidylcholines, as well as an unanticipated reduction in multiple sphingomyelin species.
data(Wangler2017)Wangler2017 - The data matrix (metabolite features are rows, patient observations are columns) for 19 untargeted metabolomics patient samples, alongside metabolite annotations.
M.F. Wangler, et al. (2018). A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genetics in Medicine, 20: 1274-1283. <doi:10.1038/gim.2017.262>