Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection.
Alpha-L-Iduronidase activity and beta-galactosidase activity were determined in mixed leukocyte preparations in 10 families in which the Hurler syndrome had occurred. Affected patients, heterozygotes, and normal subjects were clearly distinguished by alpha-L-iduronidase activity alone. Patients had 0-3%, obligate heterozygotes 19-60%, and normal subjects 83-121% of the mean normal activity. There was no overlap between heterozygotes and normal subjects. Although the mean alpha-L-iduronidase to beta-galactosidase ratio was significantly lowered in heterozygotes when compared with that of normal subjects, appreciable overlap was noted between the two groups.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D005260:Female; D005696:Galactosidases / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007068:Iduronidase / Q000097:blood; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D008059:Mucopolysaccharidosis I / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D005696:Galactosidases; D007068:Iduronidase