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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Lesch Nyhan syndrome


Other Names for this Disease
  • HPRT deficiency
  • HPRT deficiency, complete
  • HPRT1 deficiency
  • Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency
  • Lesch-Nyhan syndrome
More Names
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Treatment


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Lesch Nyhan syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.