Detection of Fabry hemizygotes and heterozygotes by measurement of -galactosidase in urine |
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| Authors: | P J Rietra J M Tager W P de Groot |
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| Institution: | 1. Laboratory of Biochemistry, B.C.P. Jansen Institute, Binnengasthuis, Amsterdam The Netherlands;2. University of Amsterdam, and Department of Dermatology, Binnengasthuis, Amsterdam The Netherlands |
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| Abstract: | The determination of α-galactosidase in urine can be used as a simple method for the diagnosis of Fabry hemizygotes. The activity of this enzyme was related to that of N-acetyl-β-glucosaminidase. The ratio N-acetyl-β-glucosaminidase/α-galactosidase in urine was relatively constant in any one individual. In the control group, the mean value of this ratio was 7.4 (range 1.2–20.5). In Fabry hemizygotes (n = 6) the ratio was 50 or higher. Three types of carriers could be recognized, with high (n = 1), intermediate (n = 2) and normal (n = 3) values, so that with this procedure some of the carriers are detected. |
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