Cytosine and uracil nucleotides in erythrocytes from two patients with pyrimidine 5'-nucleotidase deficiency.
The purine and pyrimidine nucleotides in the erythrocytes from two children with 5'-nucleotidase deficiency have been studied using HPLC-technique. The children belonged to the same Norwegian family. In addition to the conventional uracil and cytosine nucleotides relatively high concentrations of UDP-glucose, UDP-N-Ac-glucosamine, CDP-choline and CDP-ethanolamine were found.
D015720:5'-Nucleotidase; D002648:Child; D003597:Cytosine Nucleotides / Q000097:blood*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D009708:Nucleotidases / Q000172:deficiency*; D012265:Ribonucleotides / Q000097:blood; D014500:Uracil Nucleotides / Q000097:blood*
D003597:Cytosine Nucleotides; D012265:Ribonucleotides; D014500:Uracil Nucleotides; D009708:Nucleotidases; D015720:5'-Nucleotidase