All You Need to Know About Lesch-Nyhan Syndrome

All You Need to Know About Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome is a rare inherited disease caused by a defective gene on the X chromosome. The symptoms occur in different forms and affect both the body and the psyche. Lesch-Nyhan syndrome cannot be cured, only the symptoms can be alleviated.

What is Lesch-Nyhan Syndrome?

Lesch-Nyhan syndrome is caused by a genetic defect that is inherited in an x-linked recessive manner. This means that the mutated gene is on the X chromosome, one of the two sex chromosomes. See AbbreviationFinder for abbreviations related to Lesch-Nyhan Syndrome.

The Lesch-Nyhan syndrome is a rare hereditary disease that leads to a metabolic disorder due to a genetic defect. The altered gene causes a deficiency in the enzyme HGPRT, which is needed for purine metabolism.

The disorder causes uric acid to rise in the body and the level of uric acid in the blood rises (hyperuricemia). Gout develops with deposits of uric acid crystals in tendons, joints, skin and cartilage. The deposits also form in the central nervous system and cause disorders there.

The Lesch-Nyhan syndrome occurs only very rarely, in Germany only about 30 – 40 people are affected. Usually only males get sick. Women are usually only carriers of the defective gene and pass it on to their offspring. Only if the altered gene is present twice, i.e. in the homozygous state, would women become ill. Lesch-Nyhan syndrome is also called hyperuricemia syndrome or primary gout in children.


Lesch-Nyhan syndrome is caused by a genetic defect that is inherited in an x-linked recessive manner. This means that the mutated gene is on the X chromosome, one of the two sex chromosomes.

Recessive means that someone who has inherited only one defective gene will remain healthy if the second parent’s other gene is intact. This also explains why mainly men are affected by Lesch-Nyhan syndrome. Females have sex chromosomes XX, while males have XY, i.e. just one X. If females inherit a sick X from a parent, they still have the healthy X, which can fully fulfill all functions.

If males receive a sick X, the disease breaks out because there are no other healthy Xs left. In women, Lesch-Nyhan syndrome would only develop if they inherited a diseased X chromosome from both parents, which is extremely rare.

Symptoms, Ailments & Signs

Although Lesch-Nyhan syndrome is a congenital disease, the symptoms do not appear until six to eight weeks after birth. Before that, yellowish urine residues in the diapers of the affected newborns indicate a serious illness. The first clear sign of Lesch-Nyhan syndrome is the urge to vomit.

Affected babies vomit several times a day, often resulting in deficiency symptoms and dehydration. After ten months, other symptoms appear: conspicuous leg misalignments, a reduced urge to move and developmental delays. Parents also notice that the child cannot walk and does not make natural movements.

In the mildest form of the disease, there is also an increase in uric acid levels, which can result in gout later in life. In the further course, urinary tract infections and kidney stones can also form. The more severe form can be recognized by the deformities mentioned. The second most severe form can be identified by children’s characteristic self-injurious behavior.

People bite and scratch their lips and fingers, which can cause bleeding, inflammation, and other discomfort. The most severe form involves self-mutilation combined with severe mental impairment. Affected children are aggressive, constantly biting and often attacking parents and caregivers as well.

Diagnosis & History

The symptoms of Lesch-Nyhan syndrome are not present immediately after birth, but develop in the first few weeks of life. From the sixth to eighth week, frequent vomiting becomes noticeable and there are urine residues in the diapers, which are caused by the increased excretion of uric acid.

In the months that follow, typical signs of Lesch-Nyhan syndrome appear. The children move little and they lag behind in their development, both physically and mentally. They don’t learn to sit or walk, and they can’t coordinate their movements properly. You learn to speak with a delay and can only concentrate for a short time. The most striking symptom, however, is the uncontrollable compulsion to bite and thereby injure or even mutilate oneself.

However, this behavior only occurs in severe cases of the disease. In the milder form of Lesch-Nyhan syndrome, only uric acid increases, leading to gout over the years. The diagnosis is made based on the symptoms and a measurement of the uric acid level in the blood. A genetic test provides the last guarantee as to whether Lesch-Nyhan syndrome is present.


Lesch-Nyhan syndrome causes those affected to suffer from both mental and physical problems and limitations. As a rule, the patient’s quality of life is significantly reduced and restricted by this syndrome. This leads to vomiting and a reduced urge to move. Furthermore, those affected suffer from an unusual position of the legs, which can lead to bullying or teasing, especially at a young age.

Furthermore, mental disorders occur, so that children in particular suffer from underdevelopment and have to reckon with complaints in adulthood. Not infrequently, the patients are then dependent on the help of other people in their everyday life and cannot do many things on their own. Furthermore, self-mutilation can also occur, which can lead to psychological problems or depression, especially among relatives and parents.

Likewise, patients often appear aggressive or irritable, which can lead to social restrictions. Lesch-Nyhan syndrome is treated with various therapies and by taking medication. However, a positive course of the disease cannot be guaranteed in every case. Patients may then need treatment for the rest of their lives.

When should you go to the doctor?

If the child shows signs of Lesch-Nyhan syndrome, a doctor should be consulted promptly. For example, the pediatrician must be informed if the child vomits frequently one to two months after birth and generally suffers from increasing discomfort. If other symptoms and complaints become noticeable, such as a conspicuous leg position or a reduced urge to move, a doctor must be consulted. Lesch-Nyhan syndrome is a serious inherited disease that, if left untreated, results in serious complications.

Despite early therapy, the affected children suffer from severe movement restrictions and behavioral disorders, which is why close contact with the family doctor and a physiotherapist is necessary even after the treatment. In addition, patients often require psychological care. Any abnormalities in the behavior of those affected must be carefully processed and reduced as part of behavioral therapy. Depending on the symptoms, you can also go to a urologist, gynecologist, gastroenterologist or nephrologist. In the case of seizures and other medical emergencies, the emergency services are the right people to contact.

Treatment & Therapy

The treatment of Lesch-Nyhan syndrome is primarily aimed at the symptoms, since the cause of the disease, the genetic defect, cannot be treated. Drugs are administered that lower the urine level and the diet is designed to be low in purines.

You should also ensure that you drink plenty of fluids. These measures are intended to prevent or at least reduce uric acid deposits in the body and the associated impairments. Uric acid levels need to be checked regularly. Furthermore, precautions must be taken regarding self-injurious behavior. Calming drugs such as diazepam (eg Valium) but also neuroleptics such as haloperidol have already been used successfully in Lesch-Nyhan syndrome.

Sleeping pills are sometimes given at night so patients can have reasonably peaceful nights. However, the therapeutic measures depend on the severity of the Lesch-Nyhan syndrome.

Outlook & Forecast

Lesch-Nyhan syndrome has an unfavorable prognosis. There is a disposition of human genetics that leads to a metabolic disorder. The current legal situation does not allow an intervention to change the human genetic material. Therefore, the cause of the health disorder cannot be eliminated.

Discomfort and irregularities already occur in the first few weeks of life. Various impairments or delays appear in the entire development and growth process of the patient. Cognitive performance is reduced and behavioral disorders occur. If left untreated, the symptoms of the disease lead to a severe reduction in quality of life. There is a possibility of self-harm and an increased risk of injury to others.

Medical treatment is therefore essential to improve the course of the disease. Long-term therapy and medication are administered. Immediately after stopping the medication, the symptoms return within a short time. Although the disease cannot be cured, the symptomatic abnormalities can be well controlled and monitored in therapy.

Despite all efforts, freedom from complaints is not achieved. In addition to metabolic disorders, the genetic disease also leads to irreparable developmental disorders. If therapies and targeted exercises are carried out with the patient at an early stage, an overall improvement in the quality of life can be observed.


It is not possible to prevent Lesch-Nyhan syndrome because it is a hereditary disease caused by a defective gene. If a pregnant woman is known to have the defective gene and is diagnosed with Lesch-Nyhan syndrome in prenatal (before birth) tests, the pregnancy can be terminated.


With many hereditary diseases, follow-up care is very difficult, even with Lesch-Nyhan syndrome. Genetic defects or mutations can have such serious consequences that medical professionals can only mitigate, correct or treat a few of them. In many cases, hereditary diseases cause severe disabilities. Those affected have to struggle with these for life.

What can be done in aftercare often consists only of physiotherapeutic or psychotherapeutic measures. However, successful treatment can be achieved for a whole series of slowly progressing hereditary diseases. In Lesch-Nyhan syndrome, follow-up care goes hand in hand with the type of treatment aimed at managing the metabolic disorder. Accordingly, the medication aims to bring the uric acid level to a moderate level. The type of diet, which can amount to a special diet, also plays a big role in this.

General statements about the type of aftercare are only permissible to the extent that life is made easier for the patients concerned. Hereditary diseases can cause increasing or constant severe symptoms throughout life. They can significantly reduce quality of life and lifespan. In the case of many hereditary diseases, operations provide little relief. Postoperative follow-up care may be necessary.

Some of the symptoms or disorders of hereditary diseases can now be successfully treated. Psychotherapeutic care makes sense for hereditary diseases where the characteristics of the disease lead to depression, feelings of inferiority or other mental disorders.

You can do that yourself

For Lesch-Nyhan syndrome, treatment focuses on lowering the elevated levels of uric acid in the blood. This can be achieved with drugs containing the active ingredient allopurinol, accompanied by a change in lifestyle.

The doctor will suggest a diet to the patient at the beginning of therapy or refer him to a nutritionist. Together with the specialist, a nutrition plan can be drawn up, which ideally consists of a low-purine diet and regular liquid intake. Regular exercise and avoiding stress can be important factors in improving lifestyle and permanently reducing blood uric acid levels.

If children are affected, parents must take additional measures to stop the self-injurious behavior. For example, it may be necessary to tie the child down or put a helmet on him to protect his head. In severe cases, the incisors must be removed to prevent the typical self-mutilation. Many patients also require intensive psychotherapeutic care. Since the disease usually represents a significant burden for the parents, family therapy can be useful. The therapist can often establish contact with other affected parents.

Lesch-Nyhan Syndrome