Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome is an extremely rare metabolic disorder that occurs before birth, mostly in boys. It causes brain and behavior problems, including severe arthritis, poor muscle control and mental disability. A key symptom is uncontrollable self-injury. The prognosis is poor, but early detection and treatment can improve quality of life.


What is Lesch-Nyhan syndrome?

Lesch-Nyhan syndrome (LNS) is a rare congenital (at birth) disorder that affects a child's brain and behavior. A key symptom is engaging in uncontrollable self-injury, including lip and finger biting or head banging.

The disease causes a buildup of a natural waste product called uric acid in the body. Researchers suspect LNS may also affect dopamine levels. Dopamine is a chemical messenger important for healthy brain function.

Children with LNS experience a severe, painful form of arthritis called gout. They also have poor muscle control (dystonia) and mental disability.

There is no cure for Lesch-Nyhan syndrome, and the prognosis is poor. But treatment options can help you manage your child's symptoms and reduce complications for an improved quality of life.


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Who gets Lesch-Nyhan syndrome?

Lesch-Nyhan syndrome is an inherited metabolic disorder passed down from mothers to sons. It rarely affects girls.

LNS can also develop in families with no history of this genetic disorder. In these cases, Lesch-Nyhan occurs due to a sudden change (mutation) in a specific gene (HPRT1) while the baby develops during pregnancy. Genetic testing can determine if a person inherited the mutation or not.

Are there other conditions like Lesch-Nyhan syndrome?

Many conditions have symptoms that resemble Lesch-Nyhan syndrome. For example, autism spectrum disorder and cerebral palsy both have similarities to LNS. Getting an accurate diagnosis is important, so your child can receive the appropriate care for their needs.

Other conditions similar to Lesch-Nyhan syndrome include:


Are there different types of Lesch-Nyhan syndrome?

Classic Lesch-Nyhan syndrome is severe, involving physical, mental and behavioral symptoms. Children with other types (variants) of the disease tend to experience milder symptoms. They are often less likely to injure themselves or develop movement problems.

These types include:

  • HPRT1-related neurologic function (HND).
  • HPRT1-related hyperuricemia (Kelley–Seegmiller syndrome), the mildest type.

Are there other names for Lesch-Nyhan syndrome?

Lesch-Nyhan syndrome is also known as:

  • Choreoathetosis self-mutilation syndrome.
  • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
  • Juvenile gout.
  • Juvenile hyperuricemia syndrome.
  • Kelley-Seegmiller syndrome.
  • Lesch Nyhan disease (LND).
  • Primary hyperuricemia syndrome.
  • Total HPRT deficiency.
  • X-linked hyperuricemia.

How common is Lesch-Nyhan syndrome?

Lesch-Nyhan syndrome is a rare condition, affecting about 1 in 380,000 people. It almost always affects male children. The syndrome was first identified in 1964.

Symptoms and Causes

What causes Lesch-Nyhan syndrome?

The cause of Lesch-Nyhan syndrome is a change (mutation) in a specific gene (HPRT1 gene). This gene makes an important enzyme known as HPRT. Enzymes are proteins that help you function by speeding up chemical reactions in the body (metabolism).

When you have Lesch-Nyhan syndrome, your body has difficulty processing chemicals called purines. When purines are not used properly, they turn into uric acid, a waste product found in blood.

Most uric acid passes through the kidneys and leaves the body in urine. But in Lesch-Nyhan syndrome, the body collects too much uric acid (hyperuricemia).

The acid clumps into tiny stones or crystals (urate) in the skin, hands and feet. These crystals may irritate the joints and cause a type of arthritis known as gout.

Tiny stones may also form in your kidneys or bladder, where they can block the flow of urine and cause pain. In severe cases, both kidneys may stop working (renal failure).

What are the symptoms of Lesch-Nyhan syndrome?

Symptoms of Lesch-Nyhan syndrome in children affect mental ability, movement and behavior. Poor muscle control and developmental delays are common early signs of the disorder.

Babies may have orange-colored crystals in their diapers if they have too much uric acid. But most children with the disease do not show symptoms until they are about 4 months old.

There is a wide range of symptoms parents and providers may notice, including:

Injuring self and others

Compulsive (uncontrollable) self-injury is a noticeable symptom of Lesch-Nyhan syndrome after a child's teeth come in. This behavior usually involves:

In some cases, children with the disorder may try to hurt others. They may use verbal abuse or grab, hit, pinch or spit.

Muscle and movement problems

Other common symptoms include muscle control problems such as:

  • Constant repetitive movement of the arms or legs (ballismus).
  • Difficulty crawling, walking or feeding with hands.
  • Difficulty swallowing (dysphagia).
  • Exaggerated reflexes (hyperreflexia).
  • Arched back due to muscle spasms (opisthotonos).
  • Involuntary movements (dystonia) or facial expressions.
  • Involuntary twitching, wiggling or writhing (choreoathetosis).
  • Jerking movements (chorea).
  • Muscles that stiffen or tighten, preventing movement (spasticity).
  • Slurred or slow speech (dysarthria).

Health problems

Children with Lesch-Nyhan syndrome may develop certain health issues due to a buildup of uric acid in the body. These include:

Learning issues

Children may also have:

  • Learning disabilities.
  • Mental problems such as poor memory or short attention span.
  • Difficulty making complex plans.

Diagnosis and Tests

How is Lesch-Nyhan syndrome diagnosed?

You may observe symptoms in your child. Or a provider might notice unusual behavior during a checkup. Healthcare providers diagnose Lesch-Nyhan syndrome using a physical exam.

They will also ask about your child's symptoms and family history and look for signs of:

  • Developmental delays.
  • Excess uric acid through a blood or urine test.
  • Self-injury behavior.

What other tests can help diagnose Lesch-Nyhan syndrome?

Your provider may recommend blood tests and genetic testing to confirm the diagnosis and rule out other conditions. Genetic testing involves taking small blood samples. After genetic testing, a genetic counselor calls you to discuss the results with you.

If you have a family history of Lesch-Nyhan syndrome and are pregnant, talk to your healthcare provider. Your provider may recommend prenatal (before birth) testing, especially if you know your baby is male. Prenatal testing includes:

Management and Treatment

Is there a cure for Lesch-Nyhan syndrome?

There is no cure for Lesch-Nyhan syndrome and few treatment options. But healthcare providers can help you and your child manage symptoms for a better quality of life.

Who might be on my child's treatment team for Lesch-Nyhan syndrome?

If your child has Lesch-Nyhan syndrome, a care team typically handles the full range of symptoms. This team may include:

  • Genetics specialist (geneticist).
  • Kidney specialist (nephrologist).
  • Nervous system expert (neurologist).
  • Occupational therapist.
  • Pediatrician.
  • Physical therapist.
  • Social worker.
  • Speech-language pathologist.
  • Urologist.

How is Lesch-Nyhan syndrome treated?

Treatment for Lesch-Nyhan syndrome depends on your child's symptoms and their severity.

Newborns and infants with Lesch-Nyhan syndrome may need extra monitoring and feeding support.

Your healthcare provider may recommend:

  • Medications to treat excess uric acid or ease behavioral problems.
  • Feeding or swallowing support.
  • Supportive equipment like a wheelchair to aid mobility.
  • Physical and occupational therapy.
  • Protective devices such as a splint or mouthguard to prevent involuntary movements such as finger biting.
  • Procedures such as shockwave or laser lithotripsy to break up kidney or bladder stones.


How can I reduce my child’s risk of developing Lesch-Nyhan syndrome?

There is no way to prevent Lesch-Nyhan syndrome. It occurs due to genetic changes (mutations) as the baby develops in the womb.

Nothing you do causes the disease. In some cases, prenatal testing to detect the genetic mutation may be possible.

Outlook / Prognosis

What’s the outlook for Lesch-Nyhan syndrome?

The outlook for children with Lesch-Nyhan syndrome is generally poor. They usually cannot walk and require a wheelchair. Most have short lifespans, rarely living more than 20 years due to disease complications. A care team can help you and your child manage symptoms so your child can be as comfortable and active as possible.

Living With

When should I seek care for my child?

Early detection of Lesch-Nyhan syndrome is important. Healthcare providers can offer you and your child ongoing support and symptom relief. Your provider will work with you to develop a personalized care plan to meet your child's changing needs.

A note from Cleveland Clinic

Many parents feel overwhelmed after a Lesch-Nyhan syndrome diagnosis. The condition is a rare genetic disorder with no cure. But early detection and treatment can help improve quality of life. Talk to your healthcare provider about effective therapies that can make a difference as your child grows.

Medically Reviewed

Last reviewed by a Cleveland Clinic medical professional on 07/17/2022.

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