About Lesch Nyhan Syndrome

What is Lesch Nyhan Syndrome?

Lesch Nyhan Syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). It is characterized by neurological and behavioral problems, including mental retardation, self-injurious behavior, and involuntary movements. People with LNS often have difficulty controlling their movements and may engage in self-injurious behavior, such as biting their lips or fingers. Other symptoms may include kidney stones, gout, and urinary tract infections.

What are the symptoms of Lesch Nyhan Syndrome?

The main symptoms of Lesch Nyhan Syndrome include:

-Developmental delays
-Impaired motor skills
-Urinary tract problems
-Self-injurious behavior, such as biting or hitting oneself
-Gout
-Hyperactivity
-Speech and language delays
-Behavioral problems
-Seizures
-Kidney stones
-Abnormal gait
-Joint contractures
-Muscle spasms

What are the causes of Lesch Nyhan Syndrome?

Lesch Nyhan Syndrome is caused by a genetic mutation in the HPRT1 gene, which is responsible for producing an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme is responsible for breaking down purines, which are molecules that are essential for the production of DNA and RNA. Without this enzyme, purines build up in the body, leading to a variety of symptoms.

What are the treatments for Lesch Nyhan Syndrome?

The treatments for Lesch Nyhan Syndrome include:

1. Medications: Medications such as allopurinol, which helps reduce the amount of uric acid in the body, and other medications to help control the symptoms of the disorder.

2. Physical Therapy: Physical therapy can help improve muscle strength and coordination.

3. Surgery: Surgery may be necessary to correct certain physical deformities caused by the disorder.

4. Dietary Changes: A low-purine diet may be recommended to help reduce the amount of uric acid in the body.

5. Behavioral Therapy: Behavioral therapy can help manage the behavioral symptoms of the disorder.

6. Gene Therapy: Gene therapy is being studied as a potential treatment for Lesch Nyhan Syndrome.

What are the risk factors for Lesch Nyhan Syndrome?

1. Being male: Lesch Nyhan Syndrome is much more common in males than females.

2. Family history: Lesch Nyhan Syndrome is an inherited disorder, so having a family history of the disorder increases the risk.

3. Mutations in the HPRT1 gene: Lesch Nyhan Syndrome is caused by mutations in the HPRT1 gene, so having a mutation in this gene increases the risk.

Is there a cure/medications for Lesch Nyhan Syndrome?

There is no cure for Lesch Nyhan Syndrome, but medications can be used to help manage the symptoms. These medications include drugs to reduce uric acid levels, drugs to reduce self-injurious behavior, and drugs to reduce muscle spasms. Physical and occupational therapy can also help to improve mobility and reduce the risk of injury.