LC-MS/MS Based Metabolomic and Lipidomic Profiling for Biomarker Discovery in Global Developmental Delay
Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was employed to identify plasma biomarkers for global developmental delay (GDD) and intellectual disability (ID). High-resolution chromatography enabled the detection of key metabolites like 2-ketohexanoic acid and lipids such as diacylglycerol (16:0/16:0), which demonstrated exceptional diagnostic accuracy (AUC > 0.91), highlighting significant dysregulation in sphingolipid and amino acid metabolic pathways.
Researchers aiming to identify metabolic signatures and potential biomarkers for global developmental delay (GDD) and intellectual disability (ID) using plasma metabolomics and lipidomics employed a liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)-based method integrated with multivariate data analysis to comprehensively characterize plasma metabolomics and lipidomics profiles in children diagnosed with GDD/ID compared to typically developing (TD) children. The research sought to evaluate the feasibility of these methods for early identification and to explore the underlying metabolic pathways associated with GDD/ID. A paper based on their work was published in Frontiers in Cell Neuroscience.1