Identification of cytidine diphosphodiesters in erythrocytes from a patient
with pyrimidine nucleotidase deficiency
MS Swanson, RS Markin, SJ Stohs and CR Angle
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)-choline and CDP- ethanolamine from PND red cells
using methods including proton FT-NMR, spectroscopy, and comparative mass
spectrometry. The concentrations of these and other pyrimidine
nucleotidase-deficient erythrocyte nucleotides were determined using
anion-exchange high performance liquid chromatography and ultraviolet
(u.v.) detection. The pyrimidine diphosphodiesters appear to be the most
prominent abnormal pyrimidine nucleotides in PND red cells, accounting for
55% of the total red cell pyrimidine nucleotides in this disorder. It is
proposed that these abnormal phosphodiesters may be related to the
accelerated hemolysis in PND.
Volume 63,
Issue 3,
pp. 665-670,
03/01/1984
Copyright © 1984 by The American Society of Hematology
