期刊
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS
卷 30, 期 11, 页码 908-917出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/15257770.2011.621008
关键词
Enzymology; inborn errors of metabolism; laboratory diagnosis
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.
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