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Neurodevelopmental Impairment and Deranged PRPP and Purine Nucleotide Synthesis in Inherited Superactivity of PRPP Synthetase

  • Michael A. Becker
  • Juan G. Puig
  • Felicitas A. Mateos
  • Manuel L. Jimenez
  • Mitchel Kim
  • H. Anne Simnonds
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

Superactivity of PRPP synthetase (EC 2.7.6.1), the enzyme catalyzing synthesis of the purine regulatory substrate PRPP from ATP and ribose-5-P, has been reported in nearly 2 dozen families to date (1–11). Enzyme superactivity is inherited as an X chromosome-linked trait (12–14), and, in the great majority of hemizygous affected males, clinical expression is limited to early adult-onset gout with or without urolithiasis. In 3 families, however, the purine nucleotide and uric acid overproduction invariably present in affected individuals (1–9) is accompanied by neurodevelopmental impairment, including sensorineural deafness (4, 15, 16). Also unique to these 3 families among all those with enzyme superactivity are the expression of the metabolic (as well as the neurologic) defects in infancy or childhood in male patients and the development of gout and/or hearing impairment among heterozygous females.

Keywords

Uric Acid Purine Nucleotide Sensorineural Deafness Purine Synthesis Tophaceous Gout 
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.
    O. Sperling, P. Boer, S. Pesky-Brosh, E. Kanarek, and A. de Vries, Rev. Eur. Etud. Clin. Biol., 17: 703 (1972).PubMedGoogle Scholar
  2. 2.
    M. A. Becker, L. J. Meyer, A. W. Wood, and J. E. Seegmiller, Science 179: 1123 (1973).PubMedCrossRefGoogle Scholar
  3. 3.
    M. A. Becker, J. Clin. Invest. 57: 308 (1976).PubMedCrossRefGoogle Scholar
  4. 4.
    M. A. Becker, K. O. Raivio, B. Bakay, W. B. Adams, and W. L. Nyhan, J. Clin. Invest. 65: 109 (1980).PubMedCrossRefGoogle Scholar
  5. 5.
    I. Akaoka, S. Fujimori, N. Kamatani, F. Takeuchi, E. Yano, Y. Nishida, A. Hashimoto and Y. Horiuchi, J. Rheumatol. 8: 563 (1981).PubMedGoogle Scholar
  6. 6.
    Y. Nishida, I. Akaoka, and Y. Horiuchi, Biochem. Med. 26: 387 (1981).PubMedCrossRefGoogle Scholar
  7. 7.
    M. A. Becker, M. J. Losman, P. Itkin, and P. A. Simkin, J. Lab. Clin. Med. 99: 485 (1982).Google Scholar
  8. 8.
    M. A. Becker, M. J. Losman, J. Wilson, and H. A. Simmonds, Biochim. Biophys. Acta 882: 168 (1986).PubMedCrossRefGoogle Scholar
  9. 9.
    M. A. Becker, M. J. Losman, A. L. Rosenberg, J. Mehlman, D. J. Levinson, and E. W. Holmes, Arthritis Rheum. 29: 880 (1986).PubMedCrossRefGoogle Scholar
  10. 10.
    M. M. Muller, and O. Frank, Adv. Exp. Med. Biol. 41: 509 (1974).PubMedGoogle Scholar
  11. 11.
    E. Lejeune, M. Bouvier, B. Mousson, G. Llorca, and P. Baltassat, Rev. Rhum. Mal. Osteoartic. 46: 457 (1979).PubMedGoogle Scholar
  12. 12.
    E. Zoref, A. de Vries, and O. Sperling, Nature 260: 786 (1976).CrossRefGoogle Scholar
  13. 13.
    R. C. K. Yen, W. B. Adams, C. Lazar, and M. A. Becker, Proc. Natl. Acad. Sci. USA 75: 482 (1978).Google Scholar
  14. 14.
    F. Takeuchi, F. Hanaoka, E. Yano, M. Yamada, Y. Horiuchi, and I. Akaoka, Hum. Genet. 58: 322 (1981).PubMedCrossRefGoogle Scholar
  15. 15.
    A. L. Rosenberg, L. Bergstrom, B. T. Troost, and B. A. Bartholomew, N. Enql. J. Med. 282: 992 (1970).CrossRefGoogle Scholar
  16. 16.
    H. A. Simmonds, D. R. Webster, S. Lingham, and J. Wilson, Neuropediatr. 16: 106 (1985).CrossRefGoogle Scholar
  17. 17.
    L. Liddle, J. E. Seegmiller, and L. Laster, J. Lab. Clin. Med. 54: 903 (1959).PubMedGoogle Scholar
  18. 18.
    N. L. Edwards, D. Recker, and I. H. Fox, J. Clin. Invest. 63: 922 (1979).PubMedCrossRefGoogle Scholar
  19. 19.
    F. A. Mateos, J. G. Puig, M. L. Jimenez, and I. H. Fox, J. Clin. Invest. 79: 847 (1987).PubMedCrossRefGoogle Scholar
  20. 20.
    J. E. Seegmiller, A. I. Grayzel, L. Laster, and L. Liddle, J. Clin. Invest. 40: 1304 (1961).PubMedCrossRefGoogle Scholar
  21. 21.
    W. M. Kelley, F. M. Rosenbloom, J. Miller, and J. E. Seegmiller, N. Encrl. J. Med. 278: 287 (1968).CrossRefGoogle Scholar
  22. 22.
    M. A. Becker, M. J. Losman, and M. Kim, J. Biol. Chem. 262: 5596 (1987).PubMedGoogle Scholar
  23. 23.
    I. H. Fox, and W. N. Kelley, J. Biol. Chem. 247: 2126 (1972).PubMedGoogle Scholar
  24. 24.
    R. C. K. Yen, K. O. Raivio, and M. A. Becker, J. Biol. Chem. 256: 1839 (1981).PubMedGoogle Scholar
  25. 25.
    O. Sperling, G. Eilam, S. Persky-Brosh, and A. De Vries, Biochem. Med. 7: 389 (1973).PubMedCrossRefGoogle Scholar
  26. 26.
    E. Zoref, A. de Vries, and O. Sperling, J. Clin. Invest. 56: 1093 (1975).PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Michael A. Becker
    • 1
    • 2
    • 3
  • Juan G. Puig
    • 1
    • 2
    • 3
  • Felicitas A. Mateos
    • 1
    • 2
    • 3
  • Manuel L. Jimenez
    • 1
    • 2
    • 3
  • Mitchel Kim
    • 1
    • 2
    • 3
  • H. Anne Simnonds
    • 1
    • 2
    • 3
  1. 1.The University of ChicagoChicagoUSA
  2. 2.Hospital de la Seguridad Social “La Paz”MadridSpain
  3. 3.Guy’s HospitalLondonEngland

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