Lesch Nyhan Syndrome or LNS is a rare disorder , which runs in kin . It is observed in male and is present since nativity . The disorder is characterized by increased production ofuric acid , which is ordinarily find in blood line and urine and some neurological and behavioral abnormalities . The abnormally increased uric acid levels can further lead to other aesculapian problems .
Causes of Lesch Nyhan Syndrome
Lesch Nyhan syndrome is because of a flaw in a cistron that see to it the production of an enzyme called hypoxanthine - G phosphoribosyl transferase ( HPRT ) , which is responsible for for the right metamorphosis of purines . Purines are involved in a person ’s genetic makeup and are a building block of a someone ’s DNA .
Proper recycling of purine is essential to ensure firm supply of these building blocks for product of genes . The deficiency of this enzyme ( HPRT ) , affects the agency purines are recycled and their operation . This results in building up of abnormally high level of uric acid , which can lead to other health problem .
Lesch Nyhan Syndrome is triggered by a genetic mar on the ex - chromosome , hence it is an ten - linkedgenetic disorder . It is transferred from mother to Logos and as the son yield only one cristal - chromosome , which is bad , he hurt from the condition .
Signs & Symptoms of Lesch Nyhan Syndrome
The chief domain affected in Lesch Nyhan Syndrome are the neurological functioning , behavioural and cognitive abilities and excess uric acid or hyperuricemia .
overrun of uric loony toons increase its level in ancestry ( hyperuricemia ) . If this remains unnoticed and untreated , spare uric battery-acid can lead to :
neurologic deadening mainly pose as blue muscularity tone and delayed developmental milestone like posing , cower , walk , etc during the first year . In quondam babies muscle spasm of facial heftiness and limbs may be seen . Sometimes , trouble in swallowing and even lack of speech may be noted .
Some other characteristic include , irritability , loss of motor control , unnatural jerking movements of limbs , arching of spine , overactive or increased reflexes andspasticity . Affected person may have difficultness in walk , may expect assistance in these activities and may even have to utilise a wheelchair .
behavioural disturbances , often seen later are mainly characterized by ego injurious conduct like biting or head banging . These natural action that visit self harm may be noted or increased during times of focus . The ego mutilating behavior is a keynote feature of speech of Lesch Nyhan Syndrome and is assure in almost all cases . This ego destruction may increase with sentence and become severe and more like a coercion . Other behaviour issues include being strong-growing , non - conjunctive and responding coldly or with anger .
Diagnosis of Lesch Nyhan Syndrome
diagnosing of Lesch Nyhan Syndrome can be made by a detailed face history and thorough examination of the affected role . Blood and urine test are done to discover increase uric acid level . Blood tryout may also reveal microcytic anemia .
Clinical examination to assess neurological performance , behavioral job and cognitive abilities are do . Along with the distinctive clinical feature , the physician may be able to raise increase reflex action and spasticity . Physical examination to assess ontogeny may reveal , delayed growth and development , learning difficulties , delayed or absent puberty andtesticular withering .
The three main characteristics , uric Zen overproduction , neurologic impairment and behavioral problems are distinctive to make a diagnosis of Lesch Nyhan Syndrome . Exact diagnosis can be find by performing test to study the enzyme activity and genetic testing to find oneself the blemish .
Treatment of Lesch Nyhan Syndrome
Lesch Nyhan Syndrome , being a genetic disorder , it does not have discussion to heal the upset . However , sure medication may be used for cut back symptom ,
A normal respectable diet and activity is generally advised . It is important to ensure right hydration and have increase aspiration of fluids to reduce the risk of urinary stones .
strong-arm restraints may be required to foreclose major trauma from head battering and bitter . Behavior modification technique and other rehabilitation therapy may be helpful in managing behavioural and cognitive difficultness .
Prevention of Lesch Nyhan Syndrome
Persons with family story of Lesch Nyhan Syndrome should have genetic guidance before planning for a tyke . Women related to Lesch Nyhan Syndrome patients , like mothers , sisters should be screened to find if they are carriers . Prenatal cover can be done for pregnant cleaning lady who are carriers of Lesch Nyhan Syndrome or those who have a story of extradite a youngster with Lesch Nyhan Syndrome .
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