KUMAR, AB, Zdeněk SPÁČIL, F GHOMASHCHI, S MASI, T SUMIDA, M ITO, F TURECEK, CR SCOTT and 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. Clinica Chimica Acta. AMSTERDAM: ELSEVIER SCIENCE BV, vol. 451, p. 125-128. ISSN 0009-8981. doi:10.1016/j.cca.2015.08.010. 2015.
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Original name Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI
Authors KUMAR, AB, Zdeněk SPÁČIL, F GHOMASHCHI, S MASI, T SUMIDA, M ITO, F TURECEK, CR SCOTT and MH GELB.
Edition Clinica Chimica Acta, AMSTERDAM, ELSEVIER SCIENCE BV, 2015, 0009-8981.
Other information
Original language English
Type of outcome Article in a journal
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 2.799
Doi http://dx.doi.org/10.1016/j.cca.2015.08.010
UT WoS 000366236900004
Changed by Changed by: PharmDr. Zdeněk Spáčil, Ph.D., učo 238088. Changed: 29/9/2017 13:42.
Abstract
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.
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