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enzyme defect |
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enzyme defect A structural or functional defect in an enzyme needed to catalyze a normal biochemical reaction in the body. See Enzyme, Inborn error of metabolism. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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If you have an enzyme defect within your body that does not naturally break down purines than you are more likely to get gout. Seegmiller was best known for his discovery of the enzyme defect in Lesch-Nyhan Syndrome, a rare, but fatal disorder of the nervous system that causes severe mental retardation and self-mutilation impulses. Once metabolic consequences of an enzyme defect are recognized and defined, the child's symptoms can be treated with specific dietary changes, drugs and/or nutritional supplements. |
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