Chilton Medical Center - ATLANTIC HEALTH SYSTEM
Decrease (-) Restore Default Increase (+)  font size
PrintEmail
Search Health Information   

Lesch-Nyhan syndrome

Definition:

Lesch-Nyhan syndrome is a disorder passed down through families that affects how the body builds and breaks down purines. Purines are a normal part of human tissue and help make up the body's genetic blueprint. They are also found in many different foods.



Causes, incidence, and risk factors:

Lesch-Nyhan syndrome is passed down through families (inherited) as an X-linked trait . It mostly occurs in boys. Persons with this syndrome are missing or are severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HGP). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.



Symptoms:

Too much uric acid can cause gout-like swelling in some of the joints. In some cases, kidney and bladder stones develop.

Males 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.



Signs and tests:

There may be a family history of this condition.

The doctor or nurse will perform a physical exam. The exam may show:

Blood and urine tests may show high uric acid levels. A skin biopsy may show decreased levels of the HGP enzyme.



Treatment:

No specific treatment exists for Lesch-Nyhan syndrome. Gout medication (allopurinol) can lower uric acid levels. However, treatment does not improve the neurological outcome.

Some symptoms may be relieved with the following medicines:

  • Carbidopa/levodopa
  • Diazepam
  • Phenobarbital
  • Haloperidol


Support Groups:



Expectations (prognosis):

The outcome is likely to be poor. Persons with this syndrome usually need help walking and sitting and generally need a wheelchair.



Complications:

Severe, progressive disability is likely.



Calling your health care provider:

Call your health care provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family.



Prevention:

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.



References:

Harris JC. Disorders of purine and pyrimidine metabolism. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 83.




Review Date: 5/16/2012
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com


Morristown Medical Center
100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Overlook Medical Center
99 Beauvoir Avenue
Summit, NJ 07901
908-522-2000

Newton Medical Center
175 High Street
Newton, NJ 07860
973-383-2121

Chilton Medical Center
97 West Parkway
Pompton Plains, NJ 07444
973-831-5000

Goryeb Children's Hospital
100 Madison Avenue
Morristown, NJ 07960
973-971-5000

© 2014 Chilton Medical Center, 97 West Parkway, Pompton Plains, New Jersey 1-973-831-5000