Lesch Nyhan Syndrome, A General Overview

G.S. Muse

 This page is a work-in-progress class project for a human genetics course that I am taking. I am still working on properly citing my work, and fleshing out this page, so please be patient. The goal of this page will be to help people to understand Lesch-Nyhan Syndrome on not just a genetic/biological level, but also on a personal level. My goal is that students and individuals who want to understand Lesch-Nyhan will walk away with a clear understanding of the genetic basis and physical aspect of this syndrome, but that this understanding will reach beyond a textbook description of a list of symptoms to an understanding of what it is like to be in the shoes of someone who lives with Lesch Nyhan on a daily basis.

About Lesch Nyhan Syndrome

Lesch Nyhan Syndrome is a genetic disorder that leads to severe physical and neurological disability. 


Lech Nyhan is characterized by an inability to control motor functions, including spastic movement, a buildup of uric acid (due to the lack of a particular enzyme) leading to gouty arthritis and other physical ailments, mental retardation, and involuntary self-mutilization. The symptom most unique to Lesch-Nyhan is the biting of the fingers and lips as part of the self-mutilization process. This biting of the lips and fingers is a strong indication that the individual is suffering from Lesch-Nyhan, as opposed to another genetic disorder.


Individuals with Lesch-Nyhan Syndrome will often act out in a verbally abusive manner in order to provoke a reaction from caregivers and from individuals that they may come into contact with as part of the involuntary self-mutilation process.


Lesch-Nyhan Syndrome was originally recognized as being a unique metabolic disorder, and a unique inherited disease in the 1960's . From the mid 1960's to the mid 1970's researchers came to understand Lesch-Nyhan Syndrome and the biological basis for this particular genetic disease.

For an more in-depth history of the biological research into this inherited disorder, please see the Genetics and Biochemistry section of this web site.


Individuals with Lesch-Nyhan syndrome will often choose to have their teeth removed as a protective measure against self mutilation from biting.


Individuals and Cases

Chilli - Chilli is a young man with Lesch Nyhan Syndrome. In this video he is being interviewed about how his day went.

Support Groups

Lesch-Nyhan is rare, however there are online support groups that are designed to help families, individuals, and researchers who are affected by, studying, or treating Lesch-Nyhan Syndrome.





The symptoms listed here were collectively put together using these three specific links. For more information on the clinical and phenotypic information see the OMIM link that I provided for Lesch Nyhan Syndrome.




OMIM (Online Mendelian Inheritance in Man) 

(Lesch Nyhan Syndrome clinical and phenotypic information)

(HPRT enzymatic and genetic activity)

*All OMIM information was collected on March 20, 2013