Lesch Nyhan Syndrome : The Causes Extreme Amounts Of Uric Acid Being Liberated

763 Words Feb 13th, 2015 4 Pages
Have you ever acquired the urge to gnaw off your fingers or lips? It may not appeal to you to do this, but people with Lesch-Nyhan syndrome detect nothing wrong with chewing off their lips. Scientists do not possess all of the justifications to this disease, and what causes people to bite off their lips and fingers still leave scientists perplexed. Lesch-Nyhan syndrome alters how the body builds and/or breaks down purines. Purines are natural substances established in all of the body’s cells and also in most foods. Purines supply part of the chemical structure of our genes. When purines are not broken down precisely, then people are inclined to have a high level of uric acid. Lesch-Nyhan disease causes extreme amounts of uric acid to be discharged from the blood. Gouty arthritis is the consequence of the extreme amounts of uric acid being liberated. Lesch-Nyhan syndrome is a mutation in the HPRT gene. This gene is located on the X chromosome, thus why men are more susceptible to this disorder than women. There are precisely seven women who have been diagnosed with this syndrome. This disorder is passed within generations and entirely genetic, and ensues in one out of 380,000 people. There are not many ways that doctors can test for Lesch-Nyhan syndrome, but there still is a handful. Children below the age of ten can be assessed for high uric acid, and if there is a greater than 2.0 urate-to-creatinine ratio, then it is plausible that your child Lesch-Nyhan disease.…

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