Lesch Nyhan Syndrome is a rare health condition, which is more prevalent in males as compared to females. It leads to neurological and behavioral abnormalities in men. Increased uric acid is responsible for this, which is a waste material found in the blood and urine of an individual. This syndrome can be inherited can affect overall health of an individual.
Signs and symptoms of Lesch Nyhan Syndrome
Major symptoms of Lesch Nyhan Syndrome can be physical or psychological, some of them are:
Physical symptoms of Lesch Nyhan Syndrome include overproduction of uric acid. This is the major and first sign that a person affected with Lesch Nyhan Syndrome experience. This can lead to problems like stones in the kidneys, bladder, and urethra. These crystals can deposit in joints later and may lead to arthritis, with tenderness and swelling. This problem is rare in females but it can develop the symptoms of hyperuricemia.
Nervous system impairment is another symptom of Lesch Nyhan Syndrome, which can lead to problems like hypotonia. This can affect the fertility in patient.
People with Lesch Nyhan Syndrome may show huge changes in the behavior. This can lead to problems like uncontrollable self-injuries. Affected people can harm themselves and can also feel depressed and stressed. Self-injuring behavior can peak during stress and starts with biting tongue, nails, inner cheeks, and lip biting.
Causes Lesch Nyhan Syndrome
Lesch Nyhan Syndrome can pass down as sex linked trait and occurs mostly in boys. People with this problem severely lacking an enzyme called HPRT or Hypoxanthine guanine phosphoribosyltransferase 1. Human body needs this substance to recycle purines. Absence of this substance can lead to abnormally high levels of uric acid.
Diagnosis and treatment of Lesch Nyhan Syndrome
Diagnosis of Lesch Nyhan Syndrome is difficult in early stages. If the person is showing symptoms like neurological dysfunction, acid overpopulation, and behavioral disturbances then doctor can easily diagnose the problem. Doctor may ask for physical tests like Overexaggerated reflexes and spasticity to confirm the problem.
Unfortunately, there is no specific treatment for the problem. Doctors can prescribe medicines to balance the level of uric acid. These medicines cannot improve or treat neurological and psychological outcome. This can occur in every stage of life and can affect toddlers as well. If parents see some behavioral and physical symptoms in their kid then they should consult a specialist.
Lesch Nyhan Syndrome is not a common problem, but it can have some serious problems on the physical, mental, and psychological health of an individual.