LESCH NYAN SYNDROME

 Lesch nyan syndrome :- 

Definition :-

This is a syndrome also know as self mutilating syndrome , which is a type hyperurecemia . This is a disorder which occurs mainly in males in which there will be behavioral and psycological changes .


NOTE :- Hyperurecemia - means increased uric acid levels in the body .

Causes :- 

  • Defeciency of hgprt is the main cause , hgprt - hypoxanthine guanine phosphoribosyl transferase .

Symptoms / Characteristics :- 





  • Aggressiveness
  • Decreased IQ 
  • Not able to understand things quickly
  • Not able  of learn things quickly
  • self mutilation is striking symptoms of lesch nyan syndrome - like lip biting , nail biting and etc till blood does not come .
  • Head banging
  • Mental retardation
  • Gout
  • Seizures
  • Microcephaly - Brain does not develop properly as normal person so the head is smaller when compared to a normal person .

Pneumonic :- 




Treatment :-



As of now there is no treatment for the disease but , the symptoms can be treated .

  • Allopurinol - which in the form of alloxanthine prevents the increase of uric acid .
  • using medicine like diazephen , haloperidol , phenobarbital .
  • The life expectancy of the patient after the treatment is mid 20 s .

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