Lesch Nyhan syndrome
Other Names for this Disease
- HPRT complete deficiency
- HPRT deficiency
- HPRT deficiency grade IV
- HPRT deficiency, complete
- HPRT1 deficiency
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gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (
Last updated: 1/13/2015
- Lesch-Nyhan syndrome. Genetics Home Reference. February, 2013; http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome.
- 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.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- 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.