title: An HPLC-based assay of adenylosuccinate lyase in erythrocytes.
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.
authors: Laboratory of Biochemical Genetics, Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands. jorgen.bierau@mumc.nl
authors: Jörgen
authors: J
authors: Bierau
authors: Ivo N A
authors: IN
authors: Pooters
authors: Dennis
authors: D
authors: Visser
authors: Jaap A
authors: JA
authors: Bakker
mesh_terms: D000264:Adenylosuccinate Lyase / Q000378:metabolism*; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology*; D012680:Sensitivity and Specificity
chemical_list: D000264:Adenylosuccinate Lyase