title: Anderson-Fabry disease: rapid detection of carriers by hair bulb analysis.
abstract: A rapid and simple method is described for the identification of the carrier state in angiokeratoma corporis diffusum. The alpha-galactosidase (alpha-D-galactoside galactohydrolase, E.C.3.2.1.22) activities in individual hair roots are measured and compared with those of N-acetyl-beta-hexosaminidase (E.C.3.2.1.30), another lysosomal enzyme that is not affected. The cellular mosaicism typical of females heterozygous for X-linked disorders is revealed by the presence of normal, affected and partially affected hair roots. Normal individuals show no affected roots, while males hemizygous for the trait have no hair roots with enzyme activities in the normal range.
mesh_terms: D000118:Acetylglucosaminidase / Q000032:analysis*; D000795:Fabry Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005260:Female; D005696:Galactosidases / Q000032:analysis*; D006580:Genetic Carrier Screening; D006197:Hair / Q000201:enzymology*; D006596:Hexosaminidases / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D000519:alpha-Galactosidase / Q000032:analysis*
chemical_list: D005696:Galactosidases; D006596:Hexosaminidases; D000519:alpha-Galactosidase; D000118:Acetylglucosaminidase