Metabolomic Profiles in Down Syndrome: A Scoping Review of Convergent and Context-Dependent Patterns

This scoping review systematically analyzed 34 studies examining metabolomic changes in individuals with Down syndrome, revealing widespread disruptions in energy metabolism, amino acid pathways, lipid metabolism, and neurotransmitter signaling. The findings suggest that metabolic alterations are associated with phenotypic variability and comorbidities in DS, though patterns remain partially convergent and context-dependent, requiring further independent replication.