Lesch-Nyhan Disease The Lesch-Nyhan Disease/Syndrome (a.k.a. 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 380,000 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 …
showed first 75 words of 383 total

showed last 75 words of 383 total
…somebody, then apologize profusely, then repeat the action, apologize, etc. As of now, there is only 1 medication that can help with this disease, which is allopurinol. This inhibits the xanthine oxidase activity, therefore decreasing uric acid levels preventing the renal and musculoskeletal manifestations. This, unfortunately, does not prevent or alleviate the mental side of this disease. There fore it does not help the compulsive self-injuries, or injuring others, the mental retardation, or the speech impairment.