Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
In Fabry disease, as in other X-linked traits, identification of all heterozygotes is difficult. Reduced plasma alpha-galactosidase activities will correctly identify 60-70% of the carriers. The identification rate improves when an alpha/beta-galactosidase activity enzyme ratio is used. We measured alpha-galactosidase activity in reference to several other enzyme activities, beta-galactosidase, beta-hexosaminidase, and alpha-fucosidase in plasma and leukocytes from 22 suspected and 9 obligate carriers from 4 kindreds of Fabry disease patients. Utilizing such ratios or various combinations of ratios in plasma we have correctly identified the carrier state in 91% of heterozygotes. Leukocyte alpha/beta-galactosidase identified one more female than leukocyte alpha-galactosidase activities alone. We recommend the use of such multiple biochemical tests to identify carriers of Fabry disease.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005696:Galactosidases / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods; D006596:Hexosaminidases / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D000519:alpha-Galactosidase / Q000235:genetics*; D005644:alpha-L-Fucosidase / Q000235:genetics; D001616:beta-Galactosidase / Q000235:genetics
D005696:Galactosidases; D006596:Hexosaminidases; D000519:alpha-Galactosidase; D001616:beta-Galactosidase; D005644:alpha-L-Fucosidase