Metabolomics in Pediatric Digestive Diseases and Congenital Malformations

Metabolomics, an emerging technology for studying dynamic changes of small-molecule metabolites in organisms, can sensitively reflect pathophysiological status and holds significant value in early disease diagnosis and mechanistic research. This review summarizes the research progress of metabolomics applications in pediatric digestive system diseases and congenital malformations. The article first introduces the background of metabolomics, including mainstream analytical platforms such as nuclear magnetic resonance (NMR), liquid chromatography-mass spectrometry (LC-MS), and gas chromatography-mass spectrometry (GC-MS) and their characteristics, and elaborates on the key mechanisms involved in the occurrence and development of congenital malformations. The review focuses on metabolomics applications in five pediatric digestive diseases: esophageal atresia, biliary atresia, Hirschsprung disease, inflammatory bowel disease, and necrotizing enterocolitis. Studies have demonstrated that metabolomics technology can identify novel biomarkers and metabolic pathways, providing crucial evidence for early diagnosis, prognostic assessment, and therapeutic target development in pediatric digestive diseases. Finally, the article indicates that future metabolomics research should strengthen large-scale population validation and integrate multi-omics technologies with various biological samples for systematic analysis, thereby promoting clinical translation and application.