Lesch-Nyhan syndrome is a hereditary disease, which mainly affects men, causing mental retardation, aggressive behavior, self-mutilation like 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 remove orange-colored crystals in the urine.
And although this disease has no cure, the symptoms can be alleviated by administering drugs that decrease the concentration of uric acid in the blood preventing renal complications. The use of splints on the elbows and wheelchairs can reduce the severity of the mutilation, in the most serious cases, tooth extraction is indicated.
Molecular genetics techniques may be useful for diagnosing both diseased individuals and those who have the affected gene but have not developed the disease, and in such cases genetic counseling may prevent the conception of children with this disease.
The diagnosis of this disease is simple, being sufficient the observation of 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.
