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Lesch-Nyhan Syndrome

  • Michelle Badash, MS
Publication Type:


Lesch-Nyhan Syndrome

(Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency or HPRT Deficiency; Lesch-Nyhan Disease)


Lesch-Nyhan syndrome is a rare genetic disorder. It affects how the body uses purines. Purines are protein molecules that are key for the metabolism of RNA and DNA, which make up our genetic codes. People with Lesch-Nyhan syndrome can have uric acid build-up, neurologic disability, and behavioral problems, including self-harm.


Lesch-Nyhan syndrome is caused by a gene change that results in the body not having the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT is needed to break down uric acid. Without HPRT, uric acid builds up in the central nervous system, kidneys, and other parts of the body.

This gene problem can be passed from the person's mother, who is a carrier. It can also happen on its own.

Risk Factors

Lesch-Nyhan syndrome is more common in men. Having male family members on the mother's side who have Lesch-Nyhan syndrome also raises the risk.


The first symptom of Lesch-Nyhan syndrome may be orange things that look like crystals in the diaper. This may occur in children as young as 3 months. These are caused by more uric acid in the urine. Other symptoms include:

  • Irritability
  • Nervous system issues:
    • 4 to 6 months—the baby lacks muscle tone and cannot lift their head
    • 6 months—unusual arching of the back
    • 9 months—the baby cannot crawl or stand
    • 12 months—the baby cannot walk
    • 12+ months—spasms of the limbs and facial muscles
  • Delayed development
  • Behavioral problems
  • Pain and swelling of joints
  • Problems with swallowing and vomiting
  • Muscle spasm
  • Blood in the urine from kidney stones

Self harming actions are a key feature of this disease. Children start biting their fingers, lips, and the insides of their mouths as early as 2 years old. As the child grows the self injury gets more severe. Kids sometimes have to be restrained so they do not hurt themselves. The child does not want to hurt himself or others, but they cannot stop these behaviors. Why people with Lesch-Nyhan syndrome harm themselves is not fully understood.

Uric Acid Deposits in a Joint.

uric acid toehttp://services.epnet.com/getimage.aspx?imageiid=75157515si1731.jpgsi1731.jpgNULLjpgsi1731.jpgNULL\\hgfiler01a\intellect\images\si1731.jpgNULL70NULL2008-12-10295400Copyright © Nucleus Medical Media, Inc.


The doctor will ask about the child's symptoms, how they behave, and medical history. A physical exam will be done.

The child's blood may be tested. Reduced levels of the HPRT enzyme will confirm the diagnosis.


The goal of treatment is to manage symptoms. There is no cure for Lesch-Nyhan. Good hydration and some medicines may help.

Medicine may be given to:

  • Control levels of uric acid in the body
  • Help with muscle spasms
  • Help with behavioral issues

Therapy may help kids hurt themselves less.


There are no guidelines to prevent Lesch-Nyhan syndrome. People who have a family history may want to think about genetic counseling before starting a family.





  • Dolcetta, D., et al. Quantitative evaluation of the clinical effects of S-Adenosylmethionine on mood and behavior in Lesch-Nyhan patients. Nucleosides Nucleotides Nucleic Acids. 2013;32:174–88.
  • Fischer, J.F., Mainka, T., et al. Self-injurious behaviour in movement disorders: systematic review. J Neurol Neurosurg Psychiatry, 2020; 91 (7): 712-719.
  • Glick, N. Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. J Inherit Metab Dis. 2006; 29 (5): 687.
  • Lesch-Nyhan syndrome. GeneReviews website. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1149.
  • Lesch-Nyhan syndrome. National Organization for Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/lesch-nyhan-syndrome.
  • Lesch-Nyhan syndrome. Online Mendelian Inheritance in Man (OMIM) website. Available at: https://www.omim.org/entry/300322.


  • EBSCO Medical Review Board
Last Updated:

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.