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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Published inMolecular genetics and metabolism reports Vol. 1; no. C; pp. 465 - 467
Main Authors Ullal, Anirudh J, Millington, David S, Bali, Deeksha S
Format Journal Article
LanguageEnglish
Published United States Elsevier 01.01.2014
Subjects
Dried blood spots
Fluorometric enzyme assay
Maroteaux-Lamy syndrome
Mucopolysaccharidosis
Short Communication
LSD, lysosomal storage disease
4-MUS, 4-methylumbelliferyl sulfate salt
DBS, dried-blood spot
MPS VI, mucopolysaccharidosis type VI
Dried blood spots
Fluorometric enzyme assay
GAG, glycosaminoglycan
ARS-B, arylsulfatase B
4-MU, 4-methylumbelliferone
Maroteaux-Lamy syndrome
Mucopolysaccharidosis
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Summary: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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ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2014.10.005