Tandem Mass Spectrometry Has a Larger Analytical Range than
Fluorescence Assays of Lysosomal Enzymes: Application to
Newborn Screening and Diagnosis of Mucopolysaccharidoses Types
II, IVA, and VI

J 2015

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI

KUMAR, AB; S MASI; F GHOMASHCHI; NK CHENNAMANENI; M ITO et al.

Základní údaje

Originální název

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI

Autoři

KUMAR, AB; S MASI; F GHOMASHCHI; NK CHENNAMANENI; M ITO; CR SCOTT; F TURECEK; MH GELB a Zdeněk SPÁČIL

Vydání

Clinical Chemistry, Washington, USA, Amer. Assoc. Clinical Chemistry, 2015, 0009-9147

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 7.457

Označené pro přenos do RIV

DOI

https://doi.org/10.1373/clinchem.2015.242560

UT WoS

000364112200009

Změněno: 29. 9. 2017 13:43, PharmDr. Zdeněk Spáčil, Ph.D.

Anotace

V originále

BACKGROUND: There is interest in newborn screening and diagnosis of lysosomal storage diseases because of the development of treatment options that improve clinical outcome. Assays of lysosomal enzymes with high analytical range (ratio of assay response from the enzymatic reaction divided by the assay response due to nonenzymatic processes) are desirable because they are predicted to lead to a lower rate of false positives in population screening and to more accurate diagnoses. METHODS: We designed new tandem mass spectrometry (MS/MS) assays that give the largest analytical ranges reported to date for the use of dried blood spots (DBS) for detection of mucopolysaccharidoses type II (MPS-II), MPS-IVA, and MPS-VI. For comparison, we carried out fluorometric assays of 6 lysosomal enzymes using 4-methylumbelliferyl (4MU)-substrate conjugates. RESULTS: The MS/MS assays for MPS-II, -IVA, and -VI displayed analytical ranges that are 1-2 orders of magnitude higher than those for the corresponding fluorometric assays. The relatively small analytical ranges of the 4MU assays are due to the intrinsic fluorescence of the 4MU substrates, which cause high background in the assay response. CONCLUSIONS: These highly reproducible MS/MS assays for MPS-II, -IVA, and -VI can support multiplex newborn screening of these lysosomal storage diseases. MS/MS assays of lysosomal enzymes outperform 4MU fluorometric assays in terms of analytical range. Ongoing pilot studies will allow us to gauge the impact of the increased analytical range on newborn screening performance. (C) 2015 American Association for Clinical Chemistry

Citovat

KUMAR, AB; S MASI; F GHOMASHCHI; NK CHENNAMANENI; M ITO; CR SCOTT; F TURECEK; MH GELB a Zdeněk SPÁČIL. Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI. Clinical Chemistry. Washington, USA: Amer. Assoc. Clinical Chemistry, 2015, roč. 61, č. 11, s. 1363-1371. ISSN 0009-9147. Dostupné z: https://doi.org/10.1373/clinchem.2015.242560.

@article{1391007,
   author = {Kumar, AB and Masi, S and Ghomashchi, F and Chennamaneni, NK and Ito, M and Scott, CR and Turecek, F and Gelb, MH and Spáčil, Zdeněk},
   article_location = {Washington, USA},
   article_number = {11},
   doi = {https://doi.org/10.1373/clinchem.2015.242560},
   language = {eng},
   issn = {0009-9147},
   journal = {Clinical Chemistry},
   title = {Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI},
   url = {http://dx.doi.org/10.1373/clinchem.2015.242560},
   volume = {61},
   year = {2015}
}

TY  - JOUR
ID  - 1391007
AU  - Kumar, AB - Masi, S - Ghomashchi, F - Chennamaneni, NK - Ito, M - Scott, CR - Turecek, F - Gelb, MH - Spáčil, Zdeněk
PY  - 2015
TI  - Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI
JF  - Clinical Chemistry
VL  - 61
IS  - 11
SP  - 1363-1371
EP  - 1363-1371
PB  - Amer. Assoc. Clinical Chemistry
SN  - 00099147
UR  - http://dx.doi.org/10.1373/clinchem.2015.242560
L2  - http://dx.doi.org/10.1373/clinchem.2015.242560
N2  - BACKGROUND: There is interest in newborn screening and diagnosis of lysosomal storage diseases because of the development of treatment options that improve clinical outcome. Assays of lysosomal enzymes with high analytical range (ratio of assay response from the enzymatic reaction divided by the assay response due to nonenzymatic processes) are desirable because they are predicted to lead to a lower rate of false positives in population screening and to more accurate diagnoses. METHODS: We designed new tandem mass spectrometry (MS/MS) assays that give the largest analytical ranges reported to date for the use of dried blood spots (DBS) for detection of mucopolysaccharidoses type II (MPS-II), MPS-IVA, and MPS-VI. For comparison, we carried out fluorometric assays of 6 lysosomal enzymes using 4-methylumbelliferyl (4MU)-substrate conjugates. RESULTS: The MS/MS assays for MPS-II, -IVA, and -VI displayed analytical ranges that are 1-2 orders of magnitude higher than those for the corresponding fluorometric assays. The relatively small analytical ranges of the 4MU assays are due to the intrinsic fluorescence of the 4MU substrates, which cause high background in the assay response. CONCLUSIONS: These highly reproducible MS/MS assays for MPS-II, -IVA, and -VI can support multiplex newborn screening of these lysosomal storage diseases. MS/MS assays of lysosomal enzymes outperform 4MU fluorometric assays in terms of analytical range. Ongoing pilot studies will allow us to gauge the impact of the increased analytical range on newborn screening performance. (C) 2015 American Association for Clinical Chemistry
ER  -

KUMAR, AB; S MASI; F GHOMASHCHI; NK CHENNAMANENI; M ITO; CR SCOTT; F TURECEK; MH GELB a Zdeněk SPÁČIL. Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI. \textit{Clinical Chemistry}. Washington, USA: Amer. Assoc. Clinical Chemistry, 2015, roč.~61, č.~11, s.~1363-1371. ISSN~0009-9147. Dostupné z: https://doi.org/10.1373/clinchem.2015.242560.

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