BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuLesch-Nyhan syndromeLesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body builds and breaks down purines. Purines are a normal part of human tissue that help make up the body's genetic blueprint. They are also found in many different foods. Causes Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait. It occurs mostly in boys. People with this syndrome are missing or severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.Sex-linked traitGenetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, ski...Read Article Now Book Mark Article Uric acidUric acid is a chemical created when the body breaks down substances called purines. Purines are normally produced in the body and are also found in...Read Article Now Book Mark Article Symptoms Too much uric acid can cause gout-like swelling in some of the joints. In some cases, kidney and bladder stones develop.People with Lesch-Nyhan have delayed motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior, including chewing off fingertips and lips. It is unknown how the disease causes these problems. Exams and Tests There may be a family history of this condition.The health care provider will perform a physical exam. The exam may show:Increased reflexes Spasticity (having spasms)SpasticitySpasticity is stiff or rigid muscles. It may also be called unusual tightness or increased muscle tone. Reflexes (for example, a knee-jerk reflex) ...Read Article Now Book Mark Article Blood and urine tests may show high uric acid levels. A skin biopsy may show decreased levels of the HPRT1 enzyme.Skin biopsyA skin lesion biopsy is when a small amount of skin is removed so it can be examined. The skin is tested to look for skin conditions or diseases. A...Read Article Now Book Mark Article Treatment No specific treatment exists for Lesch-Nyhan syndrome. Medicine for treating gout can lower uric acid levels. However, treatment does not improve the nervous system outcome (for example, having increased reflexes and spasms).Some symptoms may be relieved with these medicines:Carbidopa/levodopa Diazepam Phenobarbital HaloperidolSelf-harm can be reduced by removal of teeth or by using a protective mouth guard designed by a dentist.You can help a person with this syndrome using stress-reduction and positive behavioral techniques. Outlook (Prognosis) The outcome is likely to be poor. People with this syndrome usually need help walking and sitting. Most need a wheelchair. Possible Complications Severe, progressive disability is likely. When to Contact a Medical Professional Call your provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family. Prevention Genetic counseling for prospective parents with a family history of Lesch-Nyhan syndrome is recommended. Testing can be done to see if a woman is a carrier of this syndrome.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...Read Article Now Book Mark Article Open ReferencesReferencesHarris JC. Disorders of purine and pyrimidine metabolism. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 108.Katz TC, Finn CT, Stoler JM. Patients with genetic syndromes. In: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, eds. Massachusetts General Hospital Handbook of General Hospital Psychiatry. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 35.AllVideoImagesTogRelated Information Genetics(Special Topic)Uric acid - blood (Medical Test) Review Date: 2/24/2022 Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.