scroll to top
Stuck on your essay?
Get ideas from this essay and see how your work stacks up
Word Count: 383
Lesch-Nyhan Disease The Lesch-Nyhan DiseaseSyndrome aka LND is a rare genetic disorder that is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase HPRT and is apparent between 3-6 months of age 1 out of every 380000 people will have this disease This disease causes severe dystonia spasticity speech impairment renal disease varying degrees of cognitive deficit and the most common symptom compulsive self-injury LND appears to be distributed evenly among races and geographical regions all over the world The discovery of this disease is credited to Micheal Lesch MD and William L Nyhan MD PHD LND is an X-linked recessive disease and have been identified in a gene on the X chromosome The number chromosome under which the defective gene is found on is Xq26 For the Majority this disease occurs in males more than females The probability is 41 not including the females that may be heterozygous LND is a genetic defect where there is an accumulation of phosporobosylpytophosphate accelerated purine production excessive uric acid production and renal and muculoskeletal manifestation What happens is that there is a disruption of the salvage pathway in the CNS and it results in the brain unable to synthesize required nucleotides Some of the clinical features of this disease include Neurological Manifestation Developmental delay Gross Motor and growth retardation with frequent vomiting The Symptoms of this disease include Compulsive Self-Injuries Speech and Language impairment and moderate to severe retardation With self-injury as children 3-5 years they will start with the biting of lips As the child grows up they will continue to bite the lips and also bite the fingers As the child turns 10-12 years old heshe will start to hurt others as well as themselves They do not want to hurt anybody but it is out of their control They usually will hurt somebody then apologize profusely then repeat the action apologize etc As of now
@Kibin is a lifesaver for my essay right now!!
- Sandra Slivka, student @ UC Berkeley
Wow, this is the best essay help I've ever received!
- Camvu Pham, student @ U of M
If I'd known about @Kibin in college, I would have gotten much more sleep
- Jen Soust, alumni @ UCLA