Lesch-Nyhan Syndrome Research Paper

Have you ever had the urge to gnaw off your fingers or lips? It may not appeal to you to do this, but people with Lesch-Nyhan syndrome see nothing wrong with chewing off their lips. Scientist do not have all of the answer to this disease, and what causes people to bite off their lips and fingers still leave scientists bewildered. Lesch-Nyhan syndrome affects how the body builds and/or breaks down purines. Purines are natural substances found in all of the body’s cells and also in most foods. Purines provide part of the chemical structure of our genes. When purines are not broken down correctly, then people tend to have a high level of uric acid. Lesch-Nyhan disease causes excessive amounts of uric acid to be released from the blood. Gouty arthritis …show more content…
This gene is located on the X chromosome, hence why men are more susceptible to this disorder than women. There are exactly seven women who have been diagnosed with this syndrome. This disorder is passed on between generations and is completely genetic, and occurs in one out of 380,000 people. There are not many ways that doctors can test for Lesch-Nyhan syndrome, but there still are a few. Children under the age of ten can be tested for high uric acid, and if there is a greater than 2.0 urate-to-creatinine ratio, then your child more than likely has Lesch-Nyhan disease. Specialists can also test for Lesch-Nyhan through a series of physical exams. These exams will test mainly the reflexes, and people with this disorder tend to have over exaggerated reflexes as well as many spasms. Alternative ways to test for this disease it to examine the blood and urine for irregular amounts of uric …show more content…
They will not be able to walk on their own and will be destined to a life in a wheelchair. These warriors will need constant care and monitoring for the rest of their life, because without it they could be a danger to themselves. Many patients do not live past 30, but there were a few lucky individuals that lived into their 40’s. Some may think that 40 years old is not that young of an age, but really their life just getting put into place. Imagine having to worry everyday whether or not today will be your last. The fear of not knowing the self-harm that you may cause to yourself that day. Patients with Lesch-Nyhan syndrome are very strong, powerful individuals because of all of the troubles they have to face. Doctors still do not know everything there is to know about this syndrome, but we must all hope that one day there will be a treatment to cure