CHARACTERIZATION AND TREATMENT MONITORING OF UREAGENESIS DISORDERS USING STABLE ISOTOPES

Abstract Urea cycle disorders (UCDs) are a group of rare conditions, possibly life-threatening and without definitive cure besides liver transplantation.Traditional biochemical analyses/biomarkers cannot reliably determine changes in the UC-function from baseline to post-intervention.We describe a UHPLC-HRMS method to assess ureagenesis in plasma a