Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.

ABSTRACT: The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integrative analytical approaches. We aimed to develop an innovative, targeted urine metabolomics (TUM) screening procedure to accelerate the diagnosis of patients with IEM. Urinary samples, spiked with three stable isotope-labeled internal standards, were analyzed for 258 diagnostic metabolites with an ultra-high performance liquid chromatography-quadrupole time-of-flight mass spectrometry (UHPLC-QTOF-MS) configuration run in positive and negative ESI modes. The software automatically annotated peaks, corrected for peak overloading, and reported peak quality and shifting. Robustness and reproducibility were satisfactory for most metabolites. Z-scores were calculated against four age-group-matched

SUBMITTER: Steinbusch LKM 

PROVIDER: S-EPMC8518793 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature