Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes.
The mean specific activity of alph-L-iduronidase in leukocytes from six obligate heterozygotes for Hurler's syndrome was found to be slightly less than one-half of the mean in normal controls; no overlap of normal and known heterozygote values was encountered. The assay has been applied with success to six potential heterozygotes, siblings of a child with Hurler's syndrome. Thus heterozygote detection of Hurler's syndrome is clearly possible; this finding, as well as the ready availability of leukocytes for screening tests, recommends their use for examination of potential carrier status in this disorder.
D000328:Adult; D002648:Child; D005260:Female; D006026:Glycoside Hydrolases / Q000097:blood*; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007068:Iduronidase / Q000097:blood*; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D010375:Pedigree
D006026:Glycoside Hydrolases; D006596:Hexosaminidases; D007068:Iduronidase