Pyrimidine nucleotidase deficiency with active dephosphorylation of dTMP: evidence for existence of thymidine nucleotidase in human erythrocytes
نویسندگان
چکیده
منابع مشابه
Pyrimidine nucleotidase deficiency with active dephosphorylation of dTMP: evidence for existence of thymidine nucleotidase in human erythrocytes.
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--...
متن کاملIdentification of thymidine nucleotidase and deoxyribonucleotidase activities among normal isozymes of 5'-nucleotidase in human erythrocytes.
The persistence of normal thymidine nucleotidase (ThyNase) activity in subjects with pyrimidine nucleotidase (PyrNase) deficiency suggested the possible existence of separate isozymes in normal human erythrocytes. This hypothesis was confirmed by studies of PyrNase-deficient individuals from five unrelated families. Erythrocytes deficient in PyrNase retained normal activity of an enzyme system ...
متن کاملCharacteristics of a pyrimidine-specific 5'-nucleotidase in human erythrocytes.
A 5'-nucleotidase with unique specificity has been identified in the soluble fraction of normal human erythrocytes. It mediates the hydrolytic dephosphorylation of pyrimidine 5'-ribosemonophosphates but is catalytically ineffective with purine nucleotides or with the 2'-, 3'-, or cyclic isomers of pyrimidine nucleotides. Activities at 37 degrees in dialyzed hemolysates of nromal human erythrocy...
متن کاملIdentification of cytidine diphosphodiesters in erythrocytes from a patient with pyrimidine nucleotidase deficiency.
Pyrimidine 5'-nucleotidase deficient (PND) erythrocytes contain elevated levels of pyrimidine nucleotides and relatively normal purine nucleotide levels. The composition of this nucleotide pool has been examined by others, but not all of the abnormal red cell metabolites in this disorder were identified. We have isolated and positively confirmed the identity of cytidine diphosphate (CDP)-cholin...
متن کاملA family with red cell pyrimidine 5'-nucleotidase deficiency.
Congenital hemolytic anemia associated with pyrimidine 5'-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it should be the clue to the diagnosis.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Blood
سال: 1983
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v62.5.1147.1147