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alkaptonuria

   Also found in: Medical, Encyclopedia, Wikipedia 0.02 sec.
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Noun1.alkaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
alcaptonuria
metabolic disorder - a disorder or defect of metabolism


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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.
Pharmacogenomics: the promise of personalized medicine by Hood, Ernie / Environmental Health Perspectives
Alkaptonuria is an example of the simple model of genetic disease.
A Revolution in Genetics: Changing Medicine, Changing Lives by Bottles, Kent / Physician Executive
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