Stephen J. Schueler, M.D.

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Lesch Nyhan Syndrome Overview

What is Lesch-Nyhan syndrome?
A person with Lesch-Nyhan syndrome has a rare, inherited illness that results in neurological disability, abnormal behavior, and abnormally high levels of uric acid in the bloodstream. Without treatment, the high uric acid levels can result in kidney stones, kidney failure, and arthritis. Lesch-Nyhan syndrome only occurs in males.

What are the symptoms of Lesch-Nyhan syndrome?
Symptoms of Lesch Nyhan syndrome include growth retardation, delayed puberty, abnormal behavior, abnormal movements, muscle spasms, and difficulty walking.

How does the doctor treat Lesch-Nyhan syndrome?
There is no cure for Lesch-Nyhan syndrome. Treatment for Lesch Nyhan syndrome includes medications that help control symptoms. These include medications that reduce uric acid in the body, medications that control muscle spasms, and anticonvulsant medications.

Continue to Lesch Nyhan Syndrome Incidence

Last Updated: Aug 27, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Lesch Nyhan Syndrome References
  1. Cusumano FJ, Penna KJ, Panossian G. Prevention of self-mutilation in patients with Lesch-Nyhan syndrome: review of literature. ASDC J Dent Child. 2001 May-Jun;68(3):175-8. [11693008]
  2. Olson L, Houlihan D. A review of behavioral treatments used for Lesch-Nyhan syndrome. Behav Modif. 2000 Apr;24(2):202-22. [10804680]
  3. Saito Y, Takashima S. Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome. Brain Dev. 2000 Sep;22 Suppl 1:S122-31. [10984673]
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