Lesch Nyhan Syndrome
INFORMATION ON LESCH-NYHAN SYNDROME:-
Lesch-Nyhan Syndrome may be defined as a condition which is characterized by the overproduction of uric acid, a nitrogen-containing compound found in blood and urine.
CAUSES OF LESCH-NYHAN SYNDROME:-
The main factors which leads to the development of Lesch-Nyhan syndrome are:-
1. Genetic disturbance.
2. Increase in blood pressure.
3. Increase in production of uric acid.
4. Absence of the enzyme hypoxanthine guanine phosphoribosyl transferase.
SYMPTOMS OF LESCH-NYHAN SYNDROME:-
1. Compulsive self-destructive behavior.
2. Movement disorder.
3. Destructive chewing of fingers or lips.
4. Impaired kidney function.
5. Joint pain.
DIAGNOSIS OF LESCH-NYHAN SYNDROME:-
Clinical test which must be performed in order to diagnose Lesch-Nyhan syndrome are:-
1. Blood test for determination of uric acid.
2. Urine test.
3. Skin biopsy.
TREATMENT OF LESCH-NYHAN SYNDROME:-
There is no treatment for the neurological defects of Lesch-Nyhan. Use of medicine like Allopurinol can lower the level of uric acid in blood. This medication is not responsible for correcting many of the symptoms. Some subjects with Lesh-Nyhan syndrome have their teeth removed to prevent self-injury.
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