hymecromone and Mucopolysaccharidosis-IV

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.

Topics: Chondroitinsulfatases; Clinical Enzyme Tests; Female; Fetal Diseases; Fluorescent Dyes; Galactosides; Humans; Hymecromone; Mucopolysaccharidosis IV; Pregnancy; Prenatal Diagnosis

A method combining immune capture and enzyme detection by fluorochemistry has been developed for the diagnostic assay of N-acetylgalactosamine-4-sulphatase (4-sulphatase). The procedure uses a monoclonal antibody 4-S 4.1 to immunoadsorb 4-sulphatase specifically from complex protein samples containing other sulphatases, and 4-methylumbelliferyl sulphate to detect captured 4-sulphatase. The assay provides an accurate and simple method for the diagnosis of Maroteaux-Lamy syndrome (Mucopolysaccharidosis type VI).

Topics: Antibodies, Monoclonal; Chondro-4-Sulfatase; Humans; Hymecromone; Immunoenzyme Techniques; Immunosorbent Techniques; Mucopolysaccharidosis IV; Spectrometry, Fluorescence