If your child’s condition has been diagnosed as Lesch-Nyhan syndrome, it will likely affect all areas of their life, but support is available for both of you.
Lesch-Nyhan syndrome is a rare genetic disorder. It occurs in approximately 1 in every 380,000 babies born in the United States. The syndrome is nearly always found in people assigned male at birth.
In Lesch-Nyhan syndrome a genetic mutation occurs before birth, causing a critical enzyme deficiency. The loss of this enzyme creates defects in certain chemical processes in the body.
Over time, the enzyme deficiency affects motor and cognitive development as well as the development of kidneys, joints, and other body systems.
There’s no cure for Lesch-Nyhan syndrome, but doctors can help develop a support plan to manage symptoms and maximize the quality of life for people born with this disorder.
In this article, we use the terms “male” and “female” to refer to someone’s sex as determined by their chromosomes.
Sex is determined by chromosomes, and gender is a social construct that can vary between time periods and cultures. Both aspects are acknowledged to exist on a spectrum both historically and by modern scientific consensus.
Lesch-Nyhan syndrome is a very rare genetic disorder inherited in an X-linked recessive pattern.
The cause of Lesch-Nyhan syndrome is present from conception. In the womb, an affected fetus has either inherited or spontaneously developed a mutation in a single gene on their X chromosome. The gene is called HPRT-1.
Because males have only one X chromosome, male babies born with this gene mutation will go on to show the symptoms of Lesch-Nyhan syndrome. Females typically inherit or develop the mutation on only one of their two X chromosomes and become asymptomatic carriers.
For this reason, Lesch-Nyhan syndrome is almost always found in males. Although it’s very rare, there are genetic circumstances when females can also develop Lesch-Nyhan syndrome.
The genetic mutation in Lesch-Nyhan syndrome means the body can’t properly make an enzyme that’s important for chemical reactions throughout the body. The enzyme is called “hypoxanthine-guanine phosphoribosyltransferase” or “HPRT.”
The absence of the HPRT enzyme causes multiple difficulties.
Children with Lesch-Nyhan syndrome can’t process important chemicals called “purines,” and this leads to an excess buildup of uric acid throughout the body. Lesch-Nyhan syndrome is also linked to lowered levels of an important neurotransmitter called “dopamine.”
The combined chemical effects of the loss of the HPRT enzyme cause the symptoms of Lesch-Nyhan syndrome.
Babies with Lesch-Nyhan syndrome may not show symptoms at birth. Signs and symptoms begin to appear in infancy, often around 4–6 months of age.
Children with Lesch-Nyhan syndrome
- kidney disease, including:
- motor difficulties, including:
- loss of motor milestones
- motor developmental delay
- limited muscle tone
- abnormal involuntary movements
- self-injury behaviors, including:
- excessive biting of lips or fingers
- head banging
- cognitive impairment
- gout-like arthritis
- megaloblastic anemia
There’s no cure for Lesch-Nyhan syndrome, but doctors can help ease your child’s symptoms. Common strategies for managing for Lesch-Nyhan syndrome include:
- Medications can help with uric acid buildup, motor dysfunction, and behavioral challenges.
- Physical and occupational therapy, feeding therapy, and mobility aids can help maximize day-to-day function.
- A kidney specialist (nephrologist) can help treat kidney stones and manage kidney health.
- Oral appliances or safe restraints may be helpful for managing biting and self-injury behavior.
- Family therapy can help both you and your child find ways of coping with the challenges.
Meeting with a genetic counselor can also be helpful if your family is affected by Lesch-Nyhan syndrome.
A care team will help manage symptoms to maintain the best possible quality of life for your child.
Even with support, most people born with Lesch-Nyhan syndrome will require extensive help with day-to-day functions throughout their lives.
There’s no cure for Lesch-Nyhan syndrome. The typical life expectancy for someone with the syndrome is shortened, rarely extending into the third decade.
You’re not alone
It can be frightening or overwhelming to receive a Lesh-Nyhan syndrome diagnosis for your child’s condition, but neither of you needs to go through it alone.
- Lesch-Nyhan.org hosts a list of healthcare professionals from around the world who specialize in support for this rare disorder.
- Love Never Sinks is an advocacy group that provides resources and support for families experiencing Lesch-Nyhan syndrome.
- Lesch Nyhan Syndrome Care And Support is a private Facebook group that allows people to connect with others who are in the same situation.
- Think Genetic is a charitable foundation that has created assistance programs for those living with genetic conditions.
You can also check ClinicalTrials.gov to see if there are any new treatment trials that are currently looking for participants. Make sure to discuss any clinical trial with a healthcare team beforehand.
Lesch-Nyhan syndrome is a rare X-linked genetic disorder caused by a mutation in the HPRT-1 gene. This mutation is usually inherited, but it can sometimes happen spontaneously.
Because the mutation is found on the X chromosome, Lesch-Nyhan syndrome is diagnosed almost exclusively in males. Females are typically asymptomatic carriers of the HPRT-1 mutation.
The gene mutation in Lesch-Nyhan syndrome causes the severe deficiency or absence of a critical metabolic enzyme called “HPRT.” Without this enzyme affected children develop a variety of difficulties, including a buildup of uric acid and a deficiency of dopamine.
Symptoms usually begin during infancy, and the Lesch-Nyhan syndrome generally leads to a shortened life expectancy. There’s currently no cure for Lesch-Nyhan syndrome, but research is ongoing.
There are medications and therapies available that can help manage symptoms, maximize function, and maintain the best possible quality of life for children with Lesch-Nyhan syndrome.