Mass Spectrometry in the Genomics Era: Expanding Newborn Screening through Metabolomic Innovation
Abstract: Inborn Errors of Metabolism (IEMs) are a diverse group of inherited disorders caused by genetic mutations that disrupt enzyme activities or cofactor availability in metabolic pathways, leading to abnormal metabolite accumulation or deficiency. Early and precise diagnosis is crucial to improving long-term outcomes. Yet, current newborn screening programs rely mainly on targeted assays detecting limited sets of metabolites, resulting in possible false negatives or positives. Widening the scope of newborn screening via untargeted metabolomics offers a promising direction, as this approach can identify a diverse array of metabolites across numerous metabolic pathways in a single analysis. Liquid Chromatography-Mass Spectrometry (LC-MS) and Gas Chromatography?Mass Spectrometry (GC-MS) are important parts of both targeted and untargeted strategies. LC-MS is great for measuring acylcarnitines and amino acids, while GC-MS is great for giving detailed profiles of organic acids. Together, these technologies form the foundation of contemporary IEM diagnostics. This review examines their technological advancements, clinical applications, and future potential, particularly in the context of integrating untargeted metabolomics into newborn screening programs, to enhance diagnostic precision, broaden the range of detectable conditions, and drive progress in personalized medicine.
Keywords: Inborn Errors of Metabolism (IEM), LC-MS, GC-MS, newborn screening, untargeted metabolomics, acylcarnitines, organic acids, tandem mass spectrometry
How to Cite?: Sailusha Katam, Dr. Sunil Kumar Pollipalli, "Mass Spectrometry in the Genomics Era: Expanding Newborn Screening through Metabolomic Innovation", Volume 14 Issue 10, October 2025, International Journal of Science and Research (IJSR), Pages: 953-958, https://www.ijsr.net/getabstract.php?paperid=SR251018094450, DOI: https://dx.doi.org/10.21275/SR251018094450