Nucleosides, nucleotides & nucleic acids · 2011
An HPLC-based assay of adenylosuccinate lyase in erythrocytes.
СтатьяВалидационное исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Bierau Jörgen, Pooters Ivo N A, Visser Dennis, Bakker Jaap A
Аннотация
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.