Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I.
Assay of alpha-L-iduronidase in peripheral leucocytes is a rapid and simple diagnostic aid in mucopolysaccharidosis I. The mean value for heterozygotes is one-half the value of normal controls, but overlap between the two groups occurs. Use of this assay may be helpful in genetic counselling of selected couples.
D006026:Glycoside Hydrolases / Q000097:blood*; D006801:Humans; D007068:Iduronidase / Q000097:blood*; D007962:Leukocytes / Q000201:enzymology*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000201:enzymology*
D006026:Glycoside Hydrolases; D007068:Iduronidase