LESCH-Nyhan Disease

  title={LESCH-Nyhan Disease},
  author={William L. Nyhan},
  journal={Journal of the History of the Neurosciences},
  pages={1 - 10}
  • W. Nyhan
  • Published 1 March 2005
  • Medicine
  • Journal of the History of the Neurosciences
The first description of Lesch-Nyhan disease was in 1964; the first two patients were seen in 1963. The disease has caught the imagination of a variety of clinicians and scientists. The clinical picture is striking, combining spasticity, involuntary movements, and cognitive retardation with self-injurious behavior and the manifestations of gout. Biochemically, the overproduction of uric acid – the end product of purine metabolism – was, when measured, the largest ever seen. The disease is now… 
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