title: Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.
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 alpha-galactosidase or alpha-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 alpha-galactosidase activity was expressed as a ratio to beta-galactosidase activity, but overlap still occurred. However, there was complete discrimination between the ratio of alpha-galactosidase A to beta-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.
mesh_terms: D000328:Adult; D000368:Aged; D002478:Cells, Cultured; D000795:Fabry Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000378:metabolism*; D006580:Genetic Carrier Screening; D006801:Humans; D007700:Kinetics; D012867:Skin / Q000201:enzymology; D000519:alpha-Galactosidase / Q000378:metabolism*
chemical_list: D005696:Galactosidases; D000519:alpha-Galactosidase