Fig. 2

Comparative Analysis of Metabolic Profiles Between Williams Syndrome (WS) and Healthy Control Groups. (a) The volcano plot analysis identified significant changes in 15 metabolites. At the top, 3 out of the 40 detected amino acids were significantly upregulated. At the bottom, of the 22 detected organic acids, 4 were significantly downregulated and 8 were significantly upregulated. Differential metabolites were defined as those with a fold change > 1.5 in WS compared to healthy controls. A threshold of VIP > 1.0 and FDR < 0.05 was used to distinguish differential metabolites from non-significant ones. (b) Hierarchical clustering of Spearman’s rank correlation of change in metabolite levels. Clusters 1–4 were selected based on distinct correlation patterns among the features, as well as significant differences observed when compared to the control group. Red represents positive correlations and blue represents negative correlations. (c) Hierarchical clustering analysis demonstrates distinctive metabolic profiles between WS and healthy control groups. (d) The heatmap displays differences in the top 25 metabolites with the most significant changes between WS and healthy controls.