A radioactive substrate and assay for alpha-L-iduronidase.
A novel radioactive substrate for alpha-L-iduronidase, anhydro[3H]mannitol-iduronide has been prepared. This compound is hydrolysed by alpha-L-iduronidase to yield anhydro[3H]mannitol, which can be separated from the substrate and counted. The assay, described for use with fibroblast homogenates, is satisfactory for the diagnosis of mucopolysaccharidosis I.
D004796:Clinical Enzyme Tests / Q000379:methods*; D004187:Disaccharides / Q000138:chemical synthesis; D005347:Fibroblasts / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000378:metabolism*; D006801:Humans; D007068:Iduronidase / Q000172:deficiency / Q000378:metabolism*; D007553:Isotope Labeling; D008353:Mannitol / Q000138:chemical synthesis; D009083:Mucopolysaccharidoses / Q000175:diagnosis; D014316:Tritium
D004187:Disaccharides; D014316:Tritium; D008353:Mannitol; D006026:Glycoside Hydrolases; D007068:Iduronidase