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alkaptonuria |
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alkaptonuria [al‚kap·tə′nür·ē·ə] (medicine) A hereditary metabolic disorder transmitted as an autosomal recessive in humans in which large amounts of homogentisic acid (alkapton) are excreted in the urine due to a deficiency of homogentisic acid oxidase. Also spelled alcaptonuria. 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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| ? Mentioned in | ? References in periodicals archive | |
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In
1902, the physician Sir Archibald Garrod, investigating alkaptonuria, a
rare inherited enzyme deficiency, suggested that enzymes were important
in the detoxification of foreign substances, and that genetically
determined differences in the operation of enzymes (characterized by
Garrod as "inborn errors of metabolism") could be responsible
for ADRs. Alkaptonuria is an example of the simple
model of genetic disease. |
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