Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Acetylglucosamine* / analogs & derivatives*
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Acetylglucosaminidase / blood
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Acetylglucosaminidase / metabolism*
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Amniotic Fluid / cytology
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Chorionic Villi / enzymology
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Clinical Enzyme Tests*
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Female
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Fibroblasts / enzymology
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Glucosamine / analogs & derivatives*
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Hexosaminidases / metabolism*
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Humans
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Hydrogen-Ion Concentration
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Hymecromone* / analogs & derivatives
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Mucopolysaccharidoses / diagnosis*
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Mucopolysaccharidosis III / diagnosis*
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Pregnancy
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Prenatal Diagnosis
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Skin / enzymology
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Spectrometry, Fluorescence
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Umbelliferones*
Substances
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Umbelliferones
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4-methylumbelliferyl 2-acetamido-2-deoxy-beta-D-glucopyranoside
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Hymecromone
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Hexosaminidases
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Acetylglucosaminidase
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Glucosamine
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Acetylglucosamine