Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots

Mucopolysaccharidosis type VI or Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan s...

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Detalles Bibliográficos
Autores principales: Ullal, Anirudh J., Millington, David S., Bali, Deeksha S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121359/
https://www.ncbi.nlm.nih.gov/pubmed/27896124
http://dx.doi.org/10.1016/j.ymgmr.2014.10.005
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author Ullal, Anirudh J.
Millington, David S.
Bali, Deeksha S.
author_facet Ullal, Anirudh J.
Millington, David S.
Bali, Deeksha S.
author_sort Ullal, Anirudh J.
collection PubMed
description Mucopolysaccharidosis type VI or Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan sulfate and chondroitin-4-sulfate. We have developed a single-step enzyme assay using a fluorescent substrate and dried blood spots to measure ARS-B activity to identify disease patients. This assay is robust, reproducible, specific and convenient to perform.
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spelling pubmed-51213592016-11-28 Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots Ullal, Anirudh J. Millington, David S. Bali, Deeksha S. Mol Genet Metab Rep Short Communication Mucopolysaccharidosis type VI or Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan sulfate and chondroitin-4-sulfate. We have developed a single-step enzyme assay using a fluorescent substrate and dried blood spots to measure ARS-B activity to identify disease patients. This assay is robust, reproducible, specific and convenient to perform. Elsevier 2014-10-22 /pmc/articles/PMC5121359/ /pubmed/27896124 http://dx.doi.org/10.1016/j.ymgmr.2014.10.005 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Short Communication
Ullal, Anirudh J.
Millington, David S.
Bali, Deeksha S.
Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots
title Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots
title_full Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots
title_fullStr Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots
title_full_unstemmed Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots
title_short Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots
title_sort development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase b (mps vi) using dried blood spots
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121359/
https://www.ncbi.nlm.nih.gov/pubmed/27896124
http://dx.doi.org/10.1016/j.ymgmr.2014.10.005
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