Abstract
The identification of female carriers of Fabry's disease is important for genetic counselling since prenatal diagnosis of affected fetuses is possible. The activities of either total α-galactosidase or α-galactosidase A in cultured fibroblasts were similar in Fabry carriers and controls and cannot therefore be used for carrier detection. Better discrimination between carriers and controls was found when total α-galactosidase activity was expressed as a ratio to β-galactosidase activity, but overlap still occurred. However, there was complete discrimination between the ratio of α-galactosidase A to β-galactosidase in cultured fibroblasts from five carriers of Fabry's disease and either 11 controls, seven hemizygote affected males or two of their female relatives.
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Fensom, A.H., Benson, P.F., Grant, A.R. et al. Fibroblast α-galactosidase a activity for identification of Fabry's disease heterozygotes. J Inherit Metab Dis 2, 9–12 (1979). https://doi.org/10.1007/BF01805555
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DOI: https://doi.org/10.1007/BF01805555