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Updated: May 27, 2026
HPLC-based Assay to Monitor Extracellular Nucleotide/Nucleoside Metabolism in Human Chronic Lymphocytic Leukemia Cells
Published on: July 20, 2016
An HPLC-based assay of adenylosuccinate lyase in erythrocytes
Jörgen Bierau1, Ivo N A Pooters, Dennis Visser
1Laboratory of Biochemical Genetics, Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands. jorgen.bierau@mumc.nl
Abstract:
ADSL deficiency is a disorder of purine metabolism with a broad clinical spectrum. A rapid and simple HPLC-based assay to measure ADSL activity in erythrocytes was developed. The suitability of DBSs was assessed. ADSL activity was measured in erythrocyte lysates and DBS using succinyl-AMP as the substrate. Detection and quantification were performed using isocratic ion-pairing reversed-phase HPLC with UV-detection. Reference values in erythrocyte lysates were established. The intra- and interassay variations were 2% and 8%, respectively. ADSL deficiency was easily recognized. ADSL activity in DBS was highly unstable, disqualifying DBS for diagnostic procedures.
