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Metabolomics in Disease Diagnosis

Book Title: Molecular Diagnostics and Genomic Medicine: Transforming Healthcare with AI

Editors: Dr. Alok Kumar Srivastav, Dr. Priyanka Das, Dr. Babasaheb Ghodke, and Dr. Nikita Pathak

Chapter: 3

DOI: https://doi.org/10.59646/978-81-69297-97-4_3

Authors: Babasaheb Ghodke, Priyanka Das, Alok Kumar Srivastav, Nikita Pathak

Abstract

Diagnostic metabolomics provides a comprehensive approach to understanding disease by analyzing small-molecule metabolites that reflect real-time physiological states. The chapter highlights how metabolomics bridges the gap between genotype and phenotype, offering functional insights into cellular processes and disease mechanisms. It discusses metabolite profiling strategies, including untargeted and targeted approaches, for identifying reliable biomarkers through advanced statistical and validation methods. Key analytical platforms such as LC-MS, LC-MS/MS, and nuclear magnetic resonance (NMR) spectroscopy are explored for their sensitivity, specificity, and quantitative capabilities. The importance of standardized sampling strategies for biological fluids and tissues is emphasized to ensure data reliability. Clinical applications in diabetes, cancer, and neurological disorders demonstrate the role of metabolomics in early detection, prognosis, and personalized medicine. Overall, metabolomics enhances diagnostic precision and supports the advancement of individualized healthcare.

Keywords: Metabolomics, Biomarker discovery, LC-MS, NMR spectroscopy, Metabolic profiling, Personalized medicine.

References

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