Summary
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 in1H-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 in31P-NMR spectra were due to CDP-choline, CDP-ethanolamine and UDP-glucose. Those spectra were not detected in other types of hemolytic anemia.
Abbreviations
- P5′N:
-
pyrimidine 5′-nucleotidase
- 1H-NMR:
-
proton unclear magnetic resonance
- 31P-NMR:
-
phosphorous nuclear magnetic resonance
- CDP:
-
cytidine diphosphate
- UDPG:
-
uridine diphosphate glucose
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Kagimoto, T., Shirono, K., Higaki, T. et al. Detection of pyrimidine 5′-nucleotidase deficiency using1H-or31P-nuclear magnetic resonance. Experientia 42, 69–72 (1986). https://doi.org/10.1007/BF01975900
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DOI: https://doi.org/10.1007/BF01975900