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Fibroblast α‐galactosidase a activity for identification of Fabry's disease heterozygotes
Author(s) -
Fensom A. H.,
Benson P. F.,
Grant A. Ronayne,
Jacobs L.
Publication year - 1979
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805555
Subject(s) - fabry disease , heterozygote advantage , prenatal diagnosis , genetic counseling , human genetics , fetus , fibroblast , biology , alpha galactosidase , disease , andrology , genotype , medicine , endocrinology , genetics , pregnancy , cell culture , gene
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.