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Irish Journal of Medical Science

, Volume 147, Issue 1, pp 213–215 | Cite as

Clinical and biochemical observations on a patient with the Lesch-Nyhan syndrome

  • R. G. G. Barry
  • B. M. Buckley
  • E. R. Tully
Brief Report

Summary

The first case in Ireland of the Lesch-Nyhan syndrome is reported. Less than 200 are known worldwide. The clinical and biochemical presentations of this patient are classical. His hyperuricaemia is being controlled satisfactorily by allopurinol, his general health being thus maintained as well as his neurological condition allows. Gouty arthritis and tophaceous deposition of urate have been prevented to date. Pharmacological treatments of his various neurological and behavioural abnormalities have not been successful.

Keywords

Uric Acid Allopurinol Serum Uric Acid Gouty Arthritis Central Nervous System Function 
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

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Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • R. G. G. Barry
    • 1
  • B. M. Buckley
    • 2
  • E. R. Tully
    • 2
  1. 1.Department of PaediatricsUniversity CollegeCork
  2. 2.Department of BiochemistryUniversity CollegeCork

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