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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 andor 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 are called urate crystal formation are caused by increased levels of uric acid in the urine Uric acid levels which are abnormally high in individuals with LNS may also cause sodium urate crystals to form in the joints kidneys central nervous system and other tissues of the body Other symptoms of LNS may include Kidney stones blood in the urine pain and swelling of the joints difficulty swallowing dysphagia and eating and vomiting impaired kidney function irritability uncontrolled aggressive andor Compulsive actions muscle weaknesshypotonia uncontrolled spastic muscle movements and neurological problems such as involuntary writhing movements of the arms and legs athetosis and purposeless repetitive movements chorea such as shoulder raising and lowering andor facial grimacing Some individuals may develop a rare disorder called megaloblastic anemia Treatment for LNS is symptomatic The drug allopurinol may be used to control excessive 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 carbidopalevdopa 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
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