Comparative Triplex Tandem Mass Spectrometry Assays of
Lysosomal Enzyme Activities in Dried Blood Spots Using Fast
Liquid Chromatography: Application to Newborn Screening of
Pompe, Fabry, and Hurler Diseases

J 2011

Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases

SPÁČIL, Zdeněk, S ELLIOTT, SL REEBER, MH GELB, CR SCOTT et. al.

Basic information

Original name

Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases

Authors

SPÁČIL, Zdeněk, S ELLIOTT, SL REEBER, MH GELB, CR SCOTT and F TURECEK

Edition

Analytical Chemistry, WASHINGTON, AMER CHEMICAL SOC, 2011, 0003-2700

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 5.856

DOI

http://dx.doi.org/10.1021/ac200417u

UT WoS

000291499800032

Změněno: 29/9/2017 13:52, PharmDr. Zdeněk Spáčil, Ph.D.

Abstract

V originále

We report a comparative study of triplex tandem mass spectrometry (MS/MS) based assays of lysosomal enzymes in dried blood spots for the early detection of Pompe, Fabry, and Hurler diseases in newborns. Four methods have been evaluated that differed in sample handling and the equipment used. A newly developed method uses assay quenching with acetonitrile to precipitate blood proteins followed by analysis on an LC electrospray/MS/MS system capable of multiple consecutive sample injections on two parallel chromatographic columns. This method requires 1.5 min per a triplex analysis of enzyme products and internal standards, which matches the throughput of the previously reported flow injection method. LC separation reduces matrix effects and allows for more facile sample workup. The new LC-based method showed figures of merit that were superior to those of the currently used method based on liquid liquid extraction into ethyl acetate and flow injection into the mass spectrometer. The other methods we investigated for comprehensive comparison involved liquid liquid extraction into ethyl acetate followed by LC ESI-MS/MS and acetonitrile quenching followed by direct flow injection. Both methods using acetonitrile quenching were found to be robust and provide good quality data while requiring fewer liquid transfer steps and less disposable material and labor than did the extraction methods. The individual merits of the new methods are discussed to present an evaluated alternative approach to high-throughput analysis in newborn screening laboratories.

Citovat

SPÁČIL, Zdeněk, S ELLIOTT, SL REEBER, MH GELB, CR SCOTT and F TURECEK. Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases. Analytical Chemistry. WASHINGTON: AMER CHEMICAL SOC, 2011, vol. 83, No 12, p. 4822-4828. ISSN 0003-2700. Available from: https://dx.doi.org/10.1021/ac200417u.

@article{1391011,
   author = {Spáčil, Zdeněk and Elliott, S and Reeber, SL and Gelb, MH and Scott, CR and Turecek, F},
   article_location = {WASHINGTON},
   article_number = {12},
   doi = {http://dx.doi.org/10.1021/ac200417u},
   language = {eng},
   issn = {0003-2700},
   journal = {Analytical Chemistry},
   title = {Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases},
   volume = {83},
   year = {2011}
}

TY  - JOUR
ID  - 1391011
AU  - Spáčil, Zdeněk - Elliott, S - Reeber, SL - Gelb, MH - Scott, CR - Turecek, F
PY  - 2011
TI  - Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases
JF  - Analytical Chemistry
VL  - 83
IS  - 12
SP  - 4822-4828
EP  - 4822-4828
PB  - AMER CHEMICAL SOC
SN  - 00032700
N2  - We report a comparative study of triplex tandem mass spectrometry (MS/MS) based assays of lysosomal enzymes in dried blood spots for the early detection of Pompe, Fabry, and Hurler diseases in newborns. Four methods have been evaluated that differed in sample handling and the equipment used. A newly developed method uses assay quenching with acetonitrile to precipitate blood proteins followed by analysis on an LC electrospray/MS/MS system capable of multiple consecutive sample injections on two parallel chromatographic columns. This method requires 1.5 min per a triplex analysis of enzyme products and internal standards, which matches the throughput of the previously reported flow injection method. LC separation reduces matrix effects and allows for more facile sample workup. The new LC-based method showed figures of merit that were superior to those of the currently used method based on liquid liquid extraction into ethyl acetate and flow injection into the mass spectrometer. The other methods we investigated for comprehensive comparison involved liquid liquid extraction into ethyl acetate followed by LC ESI-MS/MS and acetonitrile quenching followed by direct flow injection. Both methods using acetonitrile quenching were found to be robust and provide good quality data while requiring fewer liquid transfer steps and less disposable material and labor than did the extraction methods. The individual merits of the new methods are discussed to present an evaluated alternative approach to high-throughput analysis in newborn screening laboratories.
ER  -

SPÁČIL, Zdeněk, S ELLIOTT, SL REEBER, MH GELB, CR SCOTT and F TURECEK. Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases. \textit{Analytical Chemistry}. WASHINGTON: AMER CHEMICAL SOC, 2011, vol.~83, No~12, p.~4822-4828. ISSN~0003-2700. Available from: https://dx.doi.org/10.1021/ac200417u.

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