Detection of pyrimidine 5'-nucleotidase deficiency using 1H- or 31P-nuclear magnetic resonance.
We describe here a further Japanese family with pyrimidine 5'-nucleotidase (P5'N) deficiency diagnosed using a nuclear magnetic resonance (NMR) spectrum, in Kumamoto prefecture where two families having the disease have been reported before. The specific spectra in 1H-NMR of P5'N deficient erythrocytes were due to three methyl protons of CDP-choline at 3.22 ppm and to H-2, H-8 and ribose-1' of pyrimidine nucleotide phosphate(s) in the lower fields (at 5.82 and 8.00 ppm). The other specificities in 31P-NMR spectra were due to CDP-choline, CDP-ethanolamine and UDP-glucose. Those spectra were not detected in other types of hemolytic anemia.
D015720:5'-Nucleotidase; D000227:Adenine Nucleotides / Q000097:blood; D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D003566:Cytidine Diphosphate Choline / Q000097:blood; D003597:Cytosine Nucleotides / Q000097:blood; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D006859:Hydrogen; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009708:Nucleotidases / Q000097:blood / Q000172:deficiency*; D010375:Pedigree; D010758:Phosphorus; D014500:Uracil Nucleotides / Q000097:blood
D000227:Adenine Nucleotides; D003597:Cytosine Nucleotides; D014500:Uracil Nucleotides; D010758:Phosphorus; D003566:Cytidine Diphosphate Choline; D006859:Hydrogen; D009708:Nucleotidases; D015720:5'-Nucleotidase