1984 Volume 5 Issue 4 Pages 321-328
High resolution phosphorus-31 nuclear magnetic resonance (31P-NMR) spectrum was examined in fresh erythrocytes from a human homozygote with pyrimidine 5’-nucleotidase (P5N) deficiency. The spectrum was characterized by resonance lines for α-, β- and y-phosphorus of nucleoside triphosphates which were approximately two-fold greater in their intensity than in normal red cells. Anomalous resonance lines which were not observed in the spectra of normal red cells appeared in the diphosphodiester phosphorus region. Proton nuclear magnetic resonance (1H-NMR), 31P-NMR and high performance liquid chromatography (HPLC) of a deproteinized sample from the patient revealed the presence of diphosphodiester compounds such as UDP-glucose (UDPG), CDP-choline and CDP-ethanolamine, in addition to pyrimidine 5’-nucleotides so far reported for red cells from this deficiency. We have also demonstrated that the conventional 31P-NMR method may give false intracellular pH values because of magnetic susceptibility difference of the red cells.