AN HPLC-BASED ASSAY OF ADENYLOSUCCINATE LYASE IN ERYTHROCYTES

Jorgen Bierau*, Ivo N. A. Pooters, Dennis Visser, Jaap A. Bakker

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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.
Original languageEnglish
Pages (from-to)908-917
JournalNucleosides Nucleotides & Nucleic Acids
Volume30
Issue number11
DOIs
Publication statusPublished - 2011

Keywords

  • Enzymology
  • inborn errors of metabolism
  • laboratory diagnosis

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