Lesch-Nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. Purines are protein molecules that are important for the metabolism of RNA and DNA, which make up our genetic codes. Lesch-Nyhan syndrome is characterized by uric acid build-up, neurologic disability, and behavioral problems, including self-injury. It is a rare condition.
Lesch-Nyhan syndrome is caused by a mutation or change in a gene. This change results in the absence of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT is needed to metabolize uric acid. Without this enzyme, uric acid builds up in the central nervous system, kidneys, and other areas of the body.
This gene mutation occurs on the X chromosome. It can either be a new mutation in the affected person or inherited from the person's mother, who is a carrier.
Lesch-Nyhan syndrome is more common in men. Having male family members with Lesch-Nyhan syndrome (on your mother's side) also increases your risk.
The first symptom of Lesch-Nyhan syndrome may be orange-colored crystal-like deposits in the diaper. This may occur in children as young as 3 months. These deposits are caused by increased uric acid in the urine. Other symptoms include:
Self-mutilating behavior is the hallmark of this disease. Children begin to bite their fingers, lips, and the insides of their mouths as early as 2 years old.
As children grow, self-injury becomes increasingly compulsive and severe. Eventually, mechanical physical restraints will be necessary to prevent head and leg banging, nose gouging, loss of fingers and lips from biting, and loss of vision from eye rubbing, among others. In addition to self-injury, older children and teens will become physically and verbally aggressive.
The cause of these behaviors is not entirely understood. However, some experts believe it is related to abnormalities in brain chemicals called neurotransmitters. It should be stressed that the child does not want to hurt himself or others, but is incapable of preventing these behaviors. People with Lesch-Nyhan syndrome have been described as doing the opposite of what they really want.
The doctor will ask about symptoms, behavior traits, and medical history. A physical exam will be done.
Your child's bodily fluids may be tested. This can be done with blood tests. Reduced levels of the HPRT enzyme will confirm the diagnosis.
There is no treatment to cure Lesch-Nyhan. However, good hydration and certain medications may help to alleviate some of its symptoms. These may include:
The following medications may be used:
Behavioral problems may also be managed with a combination of behavioral modification techniques and medication.
S-adenosylmethionine—A single 2006 report suggests that administration of s-adenosylmethionine, a food supplement, may reduce self-mutilating behaviors in adults with this syndrome. This supplement, which is available in health food stores, is naturally synthesized by the human body and important for many bodily processes. Talk to your doctor before taking any supplements.
With treatment, the average life expectancy is early- to mid-20s. There may be an increased risk of sudden death due to respiratory causes. However, many people live longer with good medical and psychological care.
National Institute of Neurological Disorders and Stroke
NORD—National Organization of Rare Disorders
About Kids Health—The Hospital for Sick Children
CORD—Canadian Organization for Rare Disorders
Glick N. Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. J Inherit Metab Dis. 2006;29(5):687.
Neychev VK, Jinnah H. Sudden death in Lesch-Nyhan disease. Dev Med Child Neurol. 2006;48(11):923-926.
Nyhan WL, O'Neill JP, Jinnah HA, Harris JC. Lesch-Nyhan syndrome. GeneReviews website. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1149. Updated May 15, 2014. Accessed August 6, 2015
Torres RJ, Puig JG. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007;2:48.
What is Lesch-Nyhan syndrome? Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome. Updated February 2013. Accessed August 6, 2015.
Last reviewed September 2016 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.