Pyrimidine nucleotidase deficiency with active dephosphorylation of dTMP: evidence for existence of thymidine nucleotidase in human erythrocytes
Open Access
- 1 November 1983
- journal article
- Published by American Society of Hematology in Blood
- Vol. 62 (5) , 1147-1149
- https://doi.org/10.1182/blood.v62.5.1147.1147
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.Keywords
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