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

Anirudh J Ullal; David S Millington; Deeksha S Bali

doi:10.1016/j.ymgmr.2014.10.005

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

Mol Genet Metab Rep. 2014 Oct 22:1:465-467. doi: 10.1016/j.ymgmr.2014.10.005. eCollection 2014.

Authors

Anirudh J Ullal¹, David S Millington¹, Deeksha S Bali¹

Affiliation

¹ Duke Biochemical Genetics Laboratory, Department of Pediatrics, Duke Medicine, Durham, NC, USA.

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.

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.