title: Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.
abstract: 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.
authors.affiliation: Duke Biochemical Genetics Laboratory, Department of Pediatrics, Duke Medicine, Durham, NC, USA.
authors.forename: Anirudh J
authors.initials: AJ
authors.lastname: Ullal
authors.affiliation: Duke Biochemical Genetics Laboratory, Department of Pediatrics, Duke Medicine, Durham, NC, USA.
authors.forename: David S
authors.initials: DS
authors.lastname: Millington
authors.affiliation: Duke Biochemical Genetics Laboratory, Department of Pediatrics, Duke Medicine, Durham, NC, USA.
authors.forename: Deeksha S
authors.initials: DS
authors.lastname: Bali
keywords: 4-MU, 4-methylumbelliferone; 4-MUS, 4-methylumbelliferyl sulfate salt; ARS-B, arylsulfatase B; DBS, dried-blood spot; Dried blood spots; Fluorometric enzyme assay; GAG, glycosaminoglycan; LSD, lysosomal storage disease; MPS VI, mucopolysaccharidosis type VI; Maroteaux-Lamy syndrome; Mucopolysaccharidosis