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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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 Excess uric acid can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body. Symptoms may include arthritis, poor muscle control, moderate cognitive disabilities, severe kidney problems, and self-mutilating behaviors. Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. It is inherited in an X-linked recessive manner. Treatment is based on the symptoms.Lesch Nyhan syndrome is an inherited condition caused by the build-up of uric acid.
Last updated: 12/15/2010
- Lesch-Nyhan syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome. Accessed 12/15/2010.
- 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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- 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 an 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.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.