title: Enzymatic diagnosis of Morquio A syndrome with a new fluorimetric substrate.
abstract: We synthesized a new fluorimetric substrate for the enzymatic assay of galactose 6-sulphate sulphatase (Gal-6S), an enzyme which is deficient in Morquio A syndrome. Our synthetic 4-methylumbelliferyl-galactoside 6-sulphate (4Mu-Gal-6S) proved highly effective and sensitive in the postnatal, prenatal and retrospective diagnosis of Morquio A syndrome as compared to the commonly used radiolabelled substrate. With 4Mu-Gal-6S as substrate and dialyzed supernatant as the enzyme source, we defined the optimal assay conditions for Gal-6S, determined the normal control values for all available materials, and successfully performed postnatal and prenatal diagnosis of Morquio A syndrome.
authors.affiliation: Heilongjiang Branch, CAMS, Harbin.
authors.forename: H
authors.initials: H
authors.lastname: Zhao
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: P
authors.initials: P
authors.lastname: Li
mesh_terms: D002811:Chondroitinsulfatases / Q000378:metabolism; D004796:Clinical Enzyme Tests; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005456:Fluorescent Dyes; D005697:Galactosides / Q000138:chemical synthesis*; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives* / Q000138:chemical synthesis; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C073016:4-methylumbelliferyl-galactoside 6-sulfate; D005456:Fluorescent Dyes; D005697:Galactosides; D006923:Hymecromone; D002811:Chondroitinsulfatases