Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease

TL;DR

Metabolomics using mass spectrometry helps improve pediatric health by detecting diseases early and guiding personalized treatments.

Contribution

The paper highlights the potential of metabolomics in pediatric care and outlines challenges and future directions for clinical adoption.

Findings

Metabolomics supports early detection of inherited metabolic disorders and monitors growth-related metabolic changes.

Multi-omics integration enhances risk assessment and targeted treatments in pediatric conditions.

Challenges include standardizing sample processing and establishing age-specific reference ranges for clinical use.

Abstract

Mass spectrometry-based metabolomics is a valuable tool for advancing pediatric health research. Along with nuclear magnetic resonance, it enables detailed biochemical analysis from minimal sample volumes, a critical feature for pediatric diagnosis. Metabolomics supports early detection of inherited metabolic disorders, monitors metabolic changes during growth, and identifies disease markers for a range of conditions, including metabolic, neurodevelopmental, oncological, and infectious diseases. Integrating metabolomic data with genomic, proteomic (i.e., multi-omics approaches), and clinical information enables more precise and preventive care by enhancing risk assessment and informing targeted treatments. However, routine clinical use faces several challenges, including establishing age- and sex-specific reference ranges, standardizing sample collection and processing, ensuring consistency across platforms and laboratories, expanding reference databases, and improving data comparability. Ethical and regulatory issues, including informed consent, data privacy, and equitable access, also require careful consideration. Advances in high-resolution and single-cell metabolomics, artificial intelligence for data analysis, and cost-effective testing are expected to address these barriers and support broader clinical adoption. As standards and data-sharing initiatives grow, metabolomics will play an increasingly important role in pediatric diagnostics and personalized care, enabling earlier disease detection, improved treatment monitoring, and better long-term outcomes for children.

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