Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay |
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| Authors: | Wang He Ya V Voznyi J G M Huijmans G C Geilen E A Karpova T V Dudukina J Zaremba O P van Diggelen Dr W J Kleijer |
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| Institution: | 1. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands;2. Institute of Biochemistry, Academy of Sciences, Yerevan, Armenian Republic;3. Institute of Biological and Medical Chemistry, Moscow, Russia;4. Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland |
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| Abstract: | A new fluorogenic substrate, 4-methylumbelliferyl β-D-glucosaminide, was used for the assay of acetyl CoA:glucosaminide N-acetyltransferase in chorionic villi, cultured villus cells, and amniocytes. Optimal conditions for the assay and the ranges of enzyme activity were established for the various types of fetal cells. This simple fluorometric assay provides a reliable method for early prenatal diagnosis of Sanfilippo disease type C which is more convenient than current methods using radiolabelled substrates. The method was applied to amniotic fluid cells and fetal fibroblasts from an at-risk pregnancy in which an affected fetus was diagnosed by two-dimensional electrophoresis of glycosaminoglycans in the amniotic fluid. |
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| Keywords: | Prenatal diagnosis chorionic villi Sanfilippo disease type C mucolysaccharidosis type III C acetyl CoA:glucosaminide N-acetyltransferase |
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