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Hyperornithinemia, Gyrate Atrophy, and Ornithine Ketoacid Transaminase

  • S. Hayasaka
  • T. Shiono
  • K. Mizuno
  • T. Saito
  • K. Tada
  • T. Matsuzawa
  • I. Ishiguro
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 153)

Summary

We examined four cases of Japanese patients with gyrate atrophy of the choroid and retina. All cases had hyperornithinemia and deficiency of ornithine ketoacid transaminase (OKT). Two types of disease in responsiveness to vitamin B6, the responsive and non-responsive, were found. The responsive type showed the in vivo reduction of serum ornithine level after oral vitamin B6 and the OKT activity increased by high concentration of pyridoxal phosphate.

Keywords

Retinal Pigment Epithelium Ciliary Body Arginase Activity Pyridoxal Phosphate Night Blindness 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    H. Bickel, D. Feist, H. Müller, et al., Ornithinemie, Dtsch. Med. Wochenschrft, 93: 2247 (1968)CrossRefGoogle Scholar
  2. 2.
    M. M. Bradford, A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding, Anal. Biochem., 72: 248 (1976)PubMedCrossRefGoogle Scholar
  3. 3.
    S. Hayasaka, S. Hara, Y. Takaku and K. Mizuno, Distribution and some properties of cathepsin B in the bovine eyes, Exp. Eye Res., 26: 57 (1978).PubMedCrossRefGoogle Scholar
  4. 4.
    A. Merzfeld, V. A. Mezl and W. E. Knox, Enzyme metabolizing A’-pyrroline-5-carboxylate in rat tissues, Biochem. J., 166: 95 (1977).Google Scholar
  5. 5.
    M. I. Kaiser-Kupfer, D. Vall and L. A. Del Valle, A specific enzyme defect in gyrate atrophy, Am. J. Ophthalmol., 85: 200 (1978).PubMedGoogle Scholar
  6. 6.
    N. Katunuma, Y. Matsuda and I. Tomino, Studies on ornithineketoacid transaminase, II, Purification and properties, J. Biochem., 56: 499 (1964).PubMedGoogle Scholar
  7. 7.
    T. Matsuzawa and I. Ishiguro, g-Pyrroline-5-carboxylate reductase from Baker’s yeast, Biochem. Biophys. Acta., 613: 318 (1980).CrossRefGoogle Scholar
  8. 8.
    R. R. McInnes, S. A. Arshinoff, L. Bell, E. B. Marliss and J. C. McCulloch, Hyperornithinemia and gyrate atrophy of the retina, Improvement of vision during treatment with a low-arginine diet, Lancet, March, 513 (1981).Google Scholar
  9. 9.
    R. T. Schimke, Arginase, Methods in Enzymol., 17: 313 (1970).CrossRefGoogle Scholar
  10. 10.
    V. E. Shih, M. L. Efron and H. W. Moser, Hyperornithinemia, hyperammonemia and homocitrullinuria, Am. J. Dis. Child., 117: 83 (1969).PubMedGoogle Scholar
  11. 11.
    V. E. Shih, E. L. Berson, R. Manadell and S. Y. Schmidt, Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina, Am. J. Hum. Genet., 30: 174 (1978).PubMedGoogle Scholar
  12. 12.
    Simell and K. Takki, Raised plasma ornithine and gyrate atrophy of the choroid and retina, Lancet, 1: 1031 (1973).Google Scholar

Copyright information

© Springer Science+Business Media New York 1982

Authors and Affiliations

  • S. Hayasaka
  • T. Shiono
  • K. Mizuno
  • T. Saito
    • 1
  • K. Tada
    • 1
  • T. Matsuzawa
    • 2
  • I. Ishiguro
    • 2
  1. 1.Departments of Ophthalmology and PediatricsTohoku University School of MedicineSendaiJapan
  2. 2.Department of BiochemistryFujita-Gakuen University School of MedicineToyoakeJapan

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