MSACL 2018 EU Abstract

Unnur A. Thorsteinsdottir (1,2), Finnur F. Eiriksson (1,2), Hrafnhildur L. Runolfsdottir (1), Thorsteinn Hjortur Bjarnason (1,2), Vidar O Edvardsson (3), Runolfur Palsson (1,3), Margret Thorsteinsdottir (1,2)
(1)University of Iceland, Reykjavik, Iceland; (2) ArcticMass, Reykjavik, Iceland; (3) Landspitali – The National University Hospital of Iceland, Reykjavik, Iceland

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Unnur Arna Thorsteinsdottir (Presenter) University of Iceland

Presenter Bio: I hold a master’s degree in cell biology from the University of Copenhagen (graduated in 2015). I’m currently a PhD student at the Faculty of Pharmaceutical Sciences at the University of Iceland (2016-current). In my PhD project I’m developing a clinical diagnostic method for a rare kidney stone disease using UPLC-MS/MS.

Relevant Financial Disclosures (within past 24 months, reported on Jun 15, 2021) Discussing Products? NO, presenter will NOT present educational content related to products/services of the ineligible company(ies) listed above. Conflict mitigation NOT REQUIRED.

Adenine phosphoribosyltransferase (APRT) deficiency results in excessive urinary excretion of poorly soluble 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol and febuxostat effectively reduces DHA excretion and prevents urinary stone formation. However, a reliable method for therapeutic monitoring of patients with APRT deficiency is lacking. A 2D-UPLC-MS/MS assay for simultaneous quantification of the purines DHA, adenine, adenosine, inosine, hypoxanthine and xanthine and the pharmacological agents allopurinol, its active metabolite oxypurinol, and febuxostat, in human plasma samples will be developed and optimized utilizing design of experiments (DoE). To our knowledge, this is the first report of an absolute quantification of DHA in human plasma.