Fabry's disease: heterozygote detection by hair root analysis.
Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of alpha-galactosidase activity in single hair roots. A technique has been developed permitting subsequent analysis of enzyme activity and protein content of hair root cells. We have applied this method examining 8 obligatorily heterozygous sisters as well as their 5 daughters and 10 sons. Especially for identification of heterozygotes, the method described proved to be easy and reliable.
D004796:Clinical Enzyme Tests; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005696:Galactosidases / Q000032:analysis*; D006197:Hair / Q000201:enzymology*; D006579:Heterozygote; D006801:Humans
D005696:Galactosidases