Stephen J. Schueler, M.D.

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Lesch Nyhan Syndrome Evaluation

The evaluation of Lesch Nyhan syndrome begins with a history and physical examination.

Physical findings in someone with Lesch Nyhan syndrome include:

Lab testing is necessary to make the diagnosis of Lesch Nyhan syndrome.

Tests that may be used to evaluate Lesch Nyhan syndrome include:
  • Serum uric acid level
  • Serum hypoxanthine-guanine phosphoribosyltransferase level

Continue to Lesch Nyhan Syndrome Treatment

Last Updated: Dec 17, 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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