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 language | English |
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Pages (from-to) | 908-917 |
Journal | Nucleosides Nucleotides & Nucleic Acids |
Volume | 30 |
Issue number | 11 |
DOIs | |
Publication status | Published - 2011 |
Keywords
- Enzymology
- inborn errors of metabolism
- laboratory diagnosis