Serum metabolic profiling analysis of Gitelman syndrome using untargeted metabolomics.

Abstract excerpt

Gitelman syndrome (GS) is a rare hereditary kidney disorder characterized by electrolyte abnormalities. However, its systemic manifestations, such as growth retardation, suggest broader metabolic disturbances. To investigate this issue, we explored the link between GS and lipid metabolism, hypothesizing that the genetic mutation affects pathways beyond renal function. Our study focused on five pediatric GS...

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