LESCH-Nyhan Disease

@article{Nyhan2005LESCHNyhanD,
  title={LESCH-Nyhan Disease},
  author={William L. Nyhan},
  journal={Journal of the History of the Neurosciences},
  year={2005},
  volume={14},
  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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References

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TLDR
An Argentine family in which there were male and female siblings with clinically identical classic features of Lesch-Nyhan disease was analyzed and the HPRT mutation was identified, which is a C --> T transition at position 508 of the cDNA that changes the CGA codon for Arg(169) to the TGA stop codon (R169X).
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Genetic studies which support an X-linked recessive mode of transmission of gout suggest that there may be some abnormality in uric acid metabolism in the heterozygote, but that it is not regularly possible to detect the presence of the abnormal gene by measuring the excretion of uric Acid in the urine.
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