Lesch Nyon Syndrom Essay, Research Paper
Biology
Lesch Nyhan Syndrome
Lesch Nyhan Syndrome ( LNS ) is a rare, familial upset caused by a lack of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HRPT. LNS is characterized by self-mutilating wonts such as ; lip and finger seize with teething and/or caput banging. The symptoms of LNS normally appear between the ages 3 and 6 months old.
Frequently the first symptom is the presence of orange-coloured crystal-like sedimentations like orange sand in the nappies of affected babies. The sedimentations, which are called urate crystal formation, are caused by increased degrees of uric acid in the piss. Uric acid degrees, which are abnormally high in persons with LNS, may besides do Na urate crystals to organize in the articulations, kidneys, cardinal nervous system, and other tissues of the organic structure.
Other symptoms of LNS may include Kidney rocks, blood in the piss, hurting and puffiness of the articulations, trouble swallowing ( dysphagia ) and eating, and purging
, impaired kidney map, crossness, uncontrolled aggressive and/or
Compulsive actions, musculus failing ( hypotonus ) uncontrolled spastic musculus motions, and neurological jobs such as nonvoluntary wrestling motions of the weaponries and legs ( athetosis ) and purposeless insistent motions ( chorea ) such as shoulder elevation and take downing and/or facial grimacing. Some persons may develop a rare upset called megaloblastic anaemia.
Treatment for LNS is diagnostic. The drug Zyloprim may be used to command inordinate sums of uric acid. Kidney rocks may be treated with lithotripsy. There is no standard intervention for the neurological symptoms of LNS. Some symptoms may be relieved with the drugs carbidopa/levdopa, Valium, phenobarbital, or haioperidol.
The forecast for persons with LNS is hapless as there is no intervention for the neurological defects. The build-up of uric acid within the organic structure causes agonising episodes of self-mutilation and may ensue in terrible deceleration and, finally, decease.
