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  • Title: Pyrimidine nucleotidase deficiency with active dephosphorylation of dTMP: evidence for existence of thymidine nucleotidase in human erythrocytes.
    Author: Paglia DE, Valentine WN, Keitt AS, Brockway RA, Nakatani M.
    Journal: Blood; 1983 Nov; 62(5):1147-9. PubMed ID: 6313098.
    Abstract:
    Erythrocytes from a patient with classical pyrimidine nucleotidase (PyN) deficiency had less than 10% residual PyN activity with uridine 5'-monophosphate (UMP) or cytidine 5'-monophosphate (CMP) as substrate, but exhibited brisk nucleotidase activity with thymidine 5'-monophosphate (dTMP). This strongly suggests the existence of separate enzymes or isozymes of PyN in normal human erythrocytes--an hypothesis that should be tested by similar studies in other cases of severe PyN deficiency, whether induced by genetic defects or lead toxicity.
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