Lesch-Nyhan syndrome is an inherited disease, mainly affecting men, causing mental retardation, aggressive behavior, self-mutilation such as biting their fingers and lips and increasing uric acid production, leading to complications such as kidney stones and gouty arthritis.
At birth, children with lesch-nyhan syndrome are apparently normal, but in the first few months of life they can vomit and remove orange crystals from urine.
- And although this disease does not cure.
- Symptoms can be relieved by administering medications that decrease the concentration of uric acid in the blood.
- Thus avoiding kidney complications.
- The use of splints on elbows and wheelchairs can reduce the severity of mutilation.
- In the most severe cases.
- Dental extraction is indicated.
Molecular genetic techniques can be useful in diagnosing both sick individuals and those who have the affected gene but have not developed the disease, in which case genetic counseling can prevent the conception of children with this disease.
Diagnosing this disease is simple, just look at the symptoms and blood tests that indicate the amount of uric acid in your blood, but the symptoms don’t become more apparent until the first year.