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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
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Overview

Lesch Nyhan syndrome is an inherited condition caused by the build-up of uric acid.[1] Excess uric acid can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body.[2] Symptoms may include arthritis, poor muscle control, moderate cognitive disabilities, severe kidney problems, and self-mutilating behaviors.[1][2] Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. It is inherited in an X-linked recessive manner.[1] Treatment is based on the symptoms.[2]
Last updated: 12/15/2010

References

  1. Lesch-Nyhan syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome. Accessed 12/15/2010.
  2. NINDS Lesch-Nyhan Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2007; http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm. Accessed 12/15/2010.
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Please contact us with your questions about Lesch Nyhan syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Lesch Nyhan syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lesch Nyhan syndrome. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • HPRT deficiency
  • HPRT deficiency, complete
  • HPRT1 deficiency
  • Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency
  • Lesch-Nyhan syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.