A simple rapid radiometric assay for pyrimidine-5'-nucleotidase.
Pyrimidine-5'-nucleotidase deficiency appears to be an important cause of hemolytic anemia associated with basophilic stippling of the red cells. A new radiometric method for the assay of this enzyme has been developed. In this technique, 14C-CMP serves as substrate. The CMP which is not dephosphorylated to cytidine is bound to the barium sulfate precipitate which forms in the deproteinization process. The cytidine remains in solution and is counted. The method is simple and reproducible and can be carried out on large numbers of samples. Two patients with pyrimidine-5'-nucleotidase deficiency have been detected by means of this technique.
D000743:Anemia, Hemolytic / Q000097:blood / Q000201:enzymology / Q000209:etiology; D003597:Cytosine Nucleotides; D006801:Humans; D009708:Nucleotidases / Q000097:blood* / Q000172:deficiency; D011874:Radiometry / Q000379:methods; D014500:Uracil Nucleotides
D003597:Cytosine Nucleotides; D014500:Uracil Nucleotides; D009708:Nucleotidases