Fluorometric assay of alpha-L-iduronidase in serum for detection of affected and carrier animals in a canine model of mucopolysaccharidosis I.
نویسندگان
چکیده
We investigated measuring serum alpha-L-iduronidase (EC 3.2.1.76) by a sensitive fluorometric assay in 28 members of a canine family with mucopolysaccharidosis I. If assayed on the day of collection, serum was an acceptable specimen for identifying affected, carrier, and normal dogs. The overall correlation (r) between iduronidase activity in serum and mononuclear leukocytes was 0.966. However, iduronidase was extremely labile in serum refrigerated or frozen for 48 h.
منابع مشابه
Post- and pre-natal assessment of alpha-L-iduronidase deficiency with a radiolabelled natural substrate.
1. a-L-Iduronidase activity was assayed by incubation of iduronosyl anhydro[ l-3H]mannitol 6-sulphate with homogenates of cultured skin fibroblasts, amniotic cells and leucocytes derived from normal individuals, patients affected with GLiduronidase deficiency disorder (mucopolysaccharidosis type I: Hurler, Scheie and Hurler-Scheie compound) and parents of such patients. 2. The assay for cc-L-id...
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عنوان ژورنال:
- Clinical chemistry
دوره 31 6 شماره
صفحات -
تاریخ انتشار 1985