Lesch-Nyhan syndrome is a hereditary disease, which mainly affects men, causing mental retardation, aggressive behavior, self-mutilation such as biting fingers and lips and increased production of uric acid, which results in complications such as kidney stones and gouty arthritis.
At birth, children with lesch-nyhan syndrome are apparently normal, but in the first months of life they may experience episodes of vomiting and eliminate orange crystals in their urine.
And although this disease has no cure, the symptoms can be alleviated by administering medications that decrease the concentration of uric acid in the blood preventing kidney complications. The use of splints on elbows and wheelchairs can reduce the severity of mutilations, in the most severe cases, tooth extraction is indicated.
Molecular genetic techniques can be useful to diagnose both sick individuals and those who have the affected gene, but have not developed the disease, and in such cases genetic counseling can prevent the conception of children with this disease.
The diagnosis of this disease is simple, being sufficient to observe the symptoms and blood test that indicate the amount of uric acid in the blood, but the symptoms only become more evident from the first year of age.
