Lesch-Nyhan

The Lesch-Nyhan syndrome is an inherited disorder that primarily affects males, causing mental retardation, aggressive behavior, self-mutilation as biting fingers and lips and increased production of uric acid, which results in complications such as kidney stones and gout.

At birth children with Lesch-Nyhan syndrome are apparently normal, but in the first months of life may have episodes of vomiting and eliminate orange crystals in urine.

And although this disease can not be cured, the symptoms can be ameliorated by the administration of drugs that decrease the concentration of uric acid in the blood preventing renal complications. The use of splints in the elbows and wheelchairs can lessen the severity of mutilations, in severe cases is indicated tooth extraction.

Diagnosis

Molecular genetic techniques may be useful in diagnosing both diseased individuals, such as those having the gene affected, but have not developed the disease, and genetic counseling in such cases can prevent the design of children with this disease.

The diagnosis of this disease is simple enough and the observation of symptoms and blood tests that indicate the amount of uric acid in the blood, but the symptoms only become more apparent from the first year of age.