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.
References in periodicals archive ?
These findings confirmed the diagnosis of alkaptonuria.
Ochronosis is a syndrome that is characterized by pigmentation of various connective tissues, including human cartilage, and is caused by high concentrations of homogentisic acid due to alkaptonuria (inherent homogentisic acid oxidase deficiency) [1, 2].
Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.
We hereby report one such case where the patient presented with spontaneous rupture of tendon and on further investigations he was diagnosed as a case of alkaptonuria.
The authors would like to thank the Deanship of Academic Research at Mutah University for providing funding to the Alkaptonuria research project in Jordan.
Apart from the dark urine, most of the symptoms of alkaptonuria are not observed until the fourth to fifth decade.
Acute anterior uveitis as the initial presentation of alkaptonuria.
Mr Gregory, from Roby, who founded the Alkaptonuria Society, said: "We've been working with the university for five years.
Among them are hypertension, alkaptonuria, systemic chondromalacia, relapsing polychondritis, and familial cold hypersensitivity.
Some of the major inborn error of metabolism disorders include phenylketonuria, tyrosyluria, alkaptonuria, melaninuria, maple syrup urine disease, organic acidemias, indicanuria, 5-hydroxyindolacetic aciduria, cystinuria, cystinosis, and homocystinuria (Camp, Francis, & Shropshire, 2003; Strasinger & Lorenzo, 2001).
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.
Garrod to map a metabolic disease, alkaptonuria, to a Mendelian pattern of inheritance.