Lesch-Nyhan Syndrome Overview
Learn About Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body builds and breaks down chemicals called purines. Purines are a normal part of human tissue that help make up the body's genetic blueprint. They are also found in many different foods.
Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait. It occurs mostly in boys. People with this syndrome are missing or severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.
Too much uric acid can cause gout-like swelling in some of the joints. In some cases, kidney and bladder stones develop.
People with Lesch-Nyhan have delayed motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior, including chewing off fingertips and lips. It is unknown how the disease causes these problems.
No specific treatment exists for Lesch-Nyhan syndrome. Medicine for treating gout can lower uric acid levels. However, treatment does not improve the nervous system outcome (for example, having increased reflexes and spasms).
Some symptoms may be relieved with these medicines:
- Carbidopa/levodopa
- Diazepam
- Phenobarbital
- Haloperidol
Self-harm can be reduced by removal of teeth or by using a protective mouth guard designed by a dentist.
You can help a person with this syndrome using stress-reduction and positive behavioral techniques.
Rutgers Health-Pcc Monument Square
Annie Truss is a Family Medicine provider in New Brunswick, New Jersey. Dr. Truss and is rated as an Experienced provider by MediFind in the treatment of Lesch-Nyhan Syndrome. Her top areas of expertise are Lesch-Nyhan Syndrome, Dehydration, and Neurotoxicity Syndromes.
Christine Mand is an Internal Medicine provider in Peapack, New Jersey. Dr. Mand and is rated as an Advanced provider by MediFind in the treatment of Lesch-Nyhan Syndrome. Her top areas of expertise are Lesch-Nyhan Syndrome, Cerebral Palsy, Spastic Diplegia Infantile Type, and Down Syndrome.
Vincent Barba is an Internal Medicine provider in Newark, New Jersey. Dr. Barba and is rated as an Advanced provider by MediFind in the treatment of Lesch-Nyhan Syndrome. His top areas of expertise are Lesch-Nyhan Syndrome, Cerebral Palsy, Periventricular Heterotopia, and Subependymal Nodular Heterotopia.
The outcome is likely to be poor. People with this syndrome usually need help walking and sitting. Most need a wheelchair.
Severe, progressive disability is likely.
Contact your provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family.
Genetic counseling for prospective parents with a family history of Lesch-Nyhan syndrome is recommended. Testing can be done to see if a woman is a carrier of this syndrome.
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers...
Published Date: February 17, 2024
Published By: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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