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@article{1391006,
author = {Kumar, AB and Spáčil, Zdeněk and Ghomashchi, F and Masi, S and Sumida, T and Ito, M and Turecek, F and Scott, CR and Gelb, MH},
article_location = {AMSTERDAM},
doi = {http://dx.doi.org/10.1016/j.cca.2015.08.010},
language = {eng},
issn = {0009-8981},
journal = {Clinica Chimica Acta},
title = {Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI},
url = {http://dx.doi.org/10.1016/j.cca.2015.08.010},
volume = {451},
year = {2015}
}
TY - JOUR
ID - 1391006
AU - Kumar, AB - Spáčil, Zdeněk - Ghomashchi, F - Masi, S - Sumida, T - Ito, M - Turecek, F - Scott, CR - Gelb, MH
PY - 2015
TI - Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI
JF - Clinica Chimica Acta
VL - 451
SP - 125-128
EP - 125-128
PB - ELSEVIER SCIENCE BV
SN - 00098981
UR - http://dx.doi.org/10.1016/j.cca.2015.08.010
L2 - http://dx.doi.org/10.1016/j.cca.2015.08.010
N2 - Background: Treatments have been developed for mucopolysaccharidoses IVA (MPS IVA) and MPS VI suggesting the need for eventual newborn screening. Biochemical enzyme assays are important for diagnosis. Previously reported fluorimetric assays of the relevant enzymes are based on substrates with poor activity or specificity. Methods: We developed new fluorimetric assays for N-acetylgalactosamine-6-sulfatase (GALNS) and arylsulfatase B (ARSB) based on the natural substrates, N-acetylgalactosamine-6-sulfate (and 4-sulfate), which have improved activity and specificity toward the relevant enzymes. The new substrates were tested on dried blood spots on newborn screening cards, and assays showed acceptable linearity in response with the amount of enzyme present (using quality control samples). Results: When tested on dried blood spots from random newborns and affected patients, the assays showed good discrimination between the 2 sample groups. Conclusions: The analytical range of the new fluorimetric assays, defined as the ratio of enzyme-dependent-to-enzyme-independent assay response, is likely to be insufficient to use these assays for newborn screening. Rather, these new fluorimetric assays should be useful in a diagnostic lab to confirm a diagnosis via biochemical enzyme testing. (C) 2015 Elsevier B.V. All rights reserved.
ER -
KUMAR, AB, Zdeněk SPÁČIL, F GHOMASHCHI, S MASI, T SUMIDA, M ITO, F TURECEK, CR SCOTT a MH GELB. Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI. \textit{Clinica Chimica Acta}. AMSTERDAM: ELSEVIER SCIENCE BV, 2015, roč.~451, s.~125-128. ISSN~0009-8981. Dostupné z: https://dx.doi.org/10.1016/j.cca.2015.08.010.
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