AN HPLC-BASED ASSAY OF ADENYLOSUCCINATE LYASE IN ERYTHROCYTES

Jorgen Bierau; Ivo N. A. Pooters; Dennis Visser; Jaap A. Bakker

doi:10.1080/15257770.2011.621008

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 journal › Article › Academic › peer-review

3 Citations (Web of Science)

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
Pages (from-to)	908-917
Journal	Nucleosides Nucleotides & Nucleic Acids
Volume	30
Issue number	11
DOIs	https://doi.org/10.1080/15257770.2011.621008
Publication status	Published - 2011

Keywords

Enzymology
inborn errors of metabolism
laboratory diagnosis

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10.1080/15257770.2011.621008

Cite this

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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.",

keywords = "Enzymology, inborn errors of metabolism, laboratory diagnosis",

author = "Jorgen Bierau and Pooters, {Ivo N. A.} and Dennis Visser and Bakker, {Jaap A.}",

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T1 - AN HPLC-BASED ASSAY OF ADENYLOSUCCINATE LYASE IN ERYTHROCYTES

AU - Bierau, Jorgen

AU - Pooters, Ivo N. A.

AU - Visser, Dennis

AU - Bakker, Jaap A.

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

KW - Enzymology

KW - inborn errors of metabolism

KW - laboratory diagnosis

U2 - 10.1080/15257770.2011.621008

DO - 10.1080/15257770.2011.621008

M3 - Article

C2 - 22060555

SN - 1525-7770

VL - 30

SP - 908

EP - 917

JO - Nucleosides Nucleotides & Nucleic Acids

JF - Nucleosides Nucleotides & Nucleic Acids

IS - 11

ER -