Lesch Neyhan Syndrome (LNS) Lesch Nyhan Syndrome, is related with nucleotide metabolism.
- Inborn error metabolism of purine.
- Deficiency of enzyme.
Clinical Feature:
* Gout.
* Mental Retardation
* Microcephaly
* Seizures.
* Choreoathetosis
* Spasticity
- It affects only the males and is characterized by excessive uric acid production.
- Neurological abnormalities such as mental retardation, aggressive behavior, learning disability.
- This maybe related to the dependence of brain on the salvage pathway for de novo synthesis of purine nucleotides.
Treatment:
* Allopurinol It is a xanthine oxidase inhibitors. It works by reducing the production of uric acid in the body. It also used to prevent gout attacks.
* Brain disorder can not be cured.
* Allopurinol can not treat gout. once it occur.
* Kidney stones may be treated with lithotripsy, its a technique of breaking up kidney stones using Shock waves or laser beams.
* There is no standard to treatment. for the neurological symptoms of LNS.
Comments
Post a Comment