4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease.
Conditions for assay of alpha-N-acetylglucosaminidase activity in human cultured fibroblasts, cultured amniotic fluid cells, leucocytes, serum, plasma and chorionic villi were studied using the fluorogenic substrate 4-methylumbelliferyl-2-acetamido-2-deoxy-alpha-D-glucopyranoside. The substrate was found to have advantage both in terms of sensitivity and ease of use over previously-used colorimetric substrates for assay of the enzyme in these tissues, and for diagnosis of Sanfilippo B disease and identification of carriers. It should have particular application in first trimester prenatal diagnosis using chorionic villus biopsies.
D000117:Acetylglucosamine / Q000031:analogs & derivatives*; D000118:Acetylglucosaminidase / Q000097:blood / Q000378:metabolism*; D000653:Amniotic Fluid / Q000166:cytology; D002824:Chorionic Villi / Q000201:enzymology; D004796:Clinical Enzyme Tests; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005944:Glucosamine / Q000031:analogs & derivatives*; D006596:Hexosaminidases / Q000378:metabolism*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006923:Hymecromone / Q000031:analogs & derivatives; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology; D013050:Spectrometry, Fluorescence; D014468:Umbelliferones
D014468:Umbelliferones; C025158:4-methylumbelliferyl 2-acetamido-2-deoxy-beta-D-glucopyranoside; D006923:Hymecromone; D006596:Hexosaminidases; D000118:Acetylglucosaminidase; D005944:Glucosamine; D000117:Acetylglucosamine