Serum metabolic profiling analysis of Gitelman syndrome using untargeted metabolomics.

. 293 T cell with the c.1262G > T point mutation showed reduced intracellular cholesterol storage and increased cholesterol efflux, confirming a direct role of the mutation in disrupting cholesterol metabolism. Returning to our patient samples, we performed untargeted serum metabolomics to obtain a comprehensive view of metabolic changes. This analysis revealed alterations in numerous lipid-related metabolites. Crucially, glycerophospholipid metabolism was identified as the most significantly perturbed pathway in GS patients. These findings provide the first clear evidence linking this renal tubulopathy to systemic dyslipidemia, fundamentally expanding our understanding of its pathophysiology.