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The 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 regions all over the world. The discovery of t



Some common words found in the essay are:
Speech Language, Lesch-Nyhan Disease/Syndrome, Xq26 Majority, LND X-linked, Gross Motor, Manifestation Developmental, uric acid, disease include, speech impairment, compulsive self-injuries,
Approximate Word count = 386
Approximate Pages = 2 (250 words per page double spaced)

  

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