Improved Reagents for Newborn Screening of
Mucopolysaccharidosis Types I, II, and VI by Tandem Mass
Spectrometry

J 2014

Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry

CHENNAMANENI, NK, AB KUMAR, M BARCENAS, Zdeněk SPÁČIL, CR SCOTT et. al.

Základní údaje

Originální název

Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry

Autoři

CHENNAMANENI, NK, AB KUMAR, M BARCENAS, Zdeněk SPÁČIL, CR SCOTT, F TURECEK a MH GELB

Vydání

Analytical Chemistry, WASHINGTON, AMER CHEMICAL SOC, 2014, 0003-2700

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 5.636

DOI

http://dx.doi.org/10.1021/ac5004135

UT WoS

000335719900062

Změněno: 29. 9. 2017 13:50, PharmDr. Zdeněk Spáčil, Ph.D.

Anotace

V originále

Tandem mass spectrometry for the multiplex and quantitative analysis of enzyme activities in dried blood spots on newborn screening cards has emerged as a powerful technique for early assessment of lysosomal storage diseases. Here we report the design and process-scale synthesis of substrates for the enzymes alpha-L-iduronidase, iduronate-2-sulfatase, and N-acetylgalactosamine-4-sulfatase that are used for newborn screening of mucopolysaccharidosis types I, II, and VI. The products contain a bisamide unit that is hypothesized to readily protonate in the gas phase, which improves detection sensitivity by tandem mass spectrometry. The products contain a benzoyl group, which provides a useful site for inexpensive deuteration, thus facilitating the preparation of internal standards for the accurate quantification of enzymatic products. Finally, the reagents are designed with ease of synthesis in mind, thus permitting scale-up preparation to support worldwide newborn screening of lysosomal storage diseases. The new reagents provide the most sensitive assay for the three lysosomal enzymes reported to date as shown by their performance in reactions using dried blood spots as the enzyme source. Also, the ratio of assay signal to that measured in the absence of blood (background) is superior to all previously reported mucopolysaccharidosis types I, II, and VI assays.

Citovat

CHENNAMANENI, NK, AB KUMAR, M BARCENAS, Zdeněk SPÁČIL, CR SCOTT, F TURECEK a MH GELB. Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry. Analytical Chemistry. WASHINGTON: AMER CHEMICAL SOC, 2014, roč. 86, č. 9, s. 4508-4514. ISSN 0003-2700. Dostupné z: https://dx.doi.org/10.1021/ac5004135.

@article{1391009,
   author = {Chennamaneni, NK and Kumar, AB and Barcenas, M and Spáčil, Zdeněk and Scott, CR and Turecek, F and Gelb, MH},
   article_location = {WASHINGTON},
   article_number = {9},
   doi = {http://dx.doi.org/10.1021/ac5004135},
   language = {eng},
   issn = {0003-2700},
   journal = {Analytical Chemistry},
   title = {Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry},
   volume = {86},
   year = {2014}
}

TY  - JOUR
ID  - 1391009
AU  - Chennamaneni, NK - Kumar, AB - Barcenas, M - Spáčil, Zdeněk - Scott, CR - Turecek, F - Gelb, MH
PY  - 2014
TI  - Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry
JF  - Analytical Chemistry
VL  - 86
IS  - 9
SP  - 4508-4514
EP  - 4508-4514
PB  - AMER CHEMICAL SOC
SN  - 00032700
N2  - Tandem mass spectrometry for the multiplex and quantitative analysis of enzyme activities in dried blood spots on newborn screening cards has emerged as a powerful technique for early assessment of lysosomal storage diseases. Here we report the design and process-scale synthesis of substrates for the enzymes alpha-L-iduronidase, iduronate-2-sulfatase, and N-acetylgalactosamine-4-sulfatase that are used for newborn screening of mucopolysaccharidosis types I, II, and VI. The products contain a bisamide unit that is hypothesized to readily protonate in the gas phase, which improves detection sensitivity by tandem mass spectrometry. The products contain a benzoyl group, which provides a useful site for inexpensive deuteration, thus facilitating the preparation of internal standards for the accurate quantification of enzymatic products. Finally, the reagents are designed with ease of synthesis in mind, thus permitting scale-up preparation to support worldwide newborn screening of lysosomal storage diseases. The new reagents provide the most sensitive assay for the three lysosomal enzymes reported to date as shown by their performance in reactions using dried blood spots as the enzyme source. Also, the ratio of assay signal to that measured in the absence of blood (background) is superior to all previously reported mucopolysaccharidosis types I, II, and VI assays.
ER  -

CHENNAMANENI, NK, AB KUMAR, M BARCENAS, Zdeněk SPÁČIL, CR SCOTT, F TURECEK a MH GELB. Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry. \textit{Analytical Chemistry}. WASHINGTON: AMER CHEMICAL SOC, 2014, roč.~86, č.~9, s.~4508-4514. ISSN~0003-2700. Dostupné z: https://dx.doi.org/10.1021/ac5004135.

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