title: Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes.
abstract: In continued efforts to develop enzymatic assays for lysosomal storage diseases appropriate for newborn screening laboratories we have synthesized novel and specific enzyme substrates for Maroteaux-Lamy (MPS VI) and Morquio A (MPS IVA) diseases. The sulfated monosaccharide derivatives were found to be converted to product by the respective enzyme in blood from healthy patients but not by blood from patients with the relevant lysosomal storage disease. The latter result shows that the designed substrates are highly selective for the respective enzymes.
authors.affiliation: Department of Chemistry, University of Washington, Seattle, WA 98195, USA.
authors.forename: Trisha A
authors.initials: TA
authors.lastname: Duffey
authors.forename: Tanvir
authors.initials: T
authors.lastname: Khaliq
authors.forename: C Ronald
authors.initials: CR
authors.lastname: Scott
authors.forename: Frantisek
authors.initials: F
authors.lastname: Turecek
authors.forename: Michael H
authors.initials: MH
authors.lastname: Gelb
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D009005:Monosaccharides / Q000138:chemical synthesis / Q000737:chemistry* / Q000378:metabolism*; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000201:enzymology*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000201:enzymology*; D015997:Neonatal Screening / Q000379:methods*; D013379:Substrate Specificity; D013431:Sulfates / Q000138:chemical synthesis / Q000737:chemistry; D053719:Tandem Mass Spectrometry / Q000379:methods
chemical_list: D009005:Monosaccharides; D013431:Sulfates