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Detection of pyrimidine 5′-nucleotidase deficiency using1H-or31P-nuclear magnetic resonance

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  • Cellular and Molecular Biology, Immunology
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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.

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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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Authors and Affiliations

  1. The Second Department of Internal Medicine, Kumamoto University Medical School, 860, Kumamoto, Japan

    T. Kagimoto, K. Shirono, T. Oda, H. Matsuzaki, T. Nakaji & K. Takatsuki

  2. Second Department of Biochemistry, Kumamoto University Medical School, 860, Kumamoto, Japan

    T. Higaki, K. Nagata & Y. Morino

Authors
  1. T. Kagimoto
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  2. K. Shirono
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  3. T. Higaki
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  4. T. Oda
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  5. H. Matsuzaki
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  6. K. Nagata
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  7. T. Nakaji
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  8. Y. Morino
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  9. K. Takatsuki
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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

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