Hair Root Analysis in Heterozygotes for Fabry’s Disease

Abstract

Anderson-Fabry’s disease^1,2 (angiokeratoma corporis diffusum) is an X-linked disorder resulting from a lack of activity of the enzyme α-galactosidase A, the levels of which are profoundly depressed in hemizygotes³. Detection of heterozygotes is complicated by the presence of various amounts of a second enzyme α-galactosidase B and the fact that the female carriers have a mosaic tissue composition such that small biopsy samples may not be representative of the overall body levels. Further, there may be some selective pressures that favour the predominance of normal cells so that the ideal gene-dosage relationship is not observed.