Biology Lesch Nyhan Syndrome Lesch Nyhan Syndrome (LNS) is a rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HRPT. LNS is characterized by self-mutilating habits such as; lip and finger biting and/or head banging. The symptoms of LNS usually appear between the ages 3 and 6 months old. Frequently the first symptom is the presence of orange-colored crystal-like deposits like orange sand in the diapers of affected infants. The deposits, which …
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showed last 75 words of 293 total
…amounts of uric acid. Kidney stones may be treated with lithotripsy. There is no standard treatment for the neurological symptoms of LNS. Some symptoms may be relieved with the drugs carbidopa/levdopa, diazepam, phenobarbital, or haioperidol. The prognosis for individuals with LNS is poor as there is no treatment for the neurological defects. The build-up of uric acid within the body causes agonizing episodes of self-mutilation and may result in severe retardation and, ultimately, death.