alkaptonuria


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  • noun

Synonyms for alkaptonuria

a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine

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References in periodicals archive ?
A common symptom of alkaptonuria, ochronosis is the result of excess homogentisic acid (HGA) due to the autosomal recessive mutation of the homogentisate 1, 2-dioxygenase (HGO) gene on chromosome 3.
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.
In 1902, while investigating alkaptonuria, a rare inherited enzyme deficiency that results in joint disease, physician Archibald Garrod suggested that genetic differences in metabolism may be responsible for adverse drug reactions.
The diagnosis of alkaptonuria was confirmed by the presence of markedly elevated homogentisic acid levels (1568 [micro]g/mg of creatinine, 780 times the normal level).
Unlike the straightforward alkaptonuria gene, there appears to be no single asthma gene.
Yesterday he saw his vision become a reality when the Robert Gregory National Alkaptonuria Centre was officially opened at the Royal.
Until a few years ago Simon was one of only six people in the UK diagnosed with alkaptonuria, commonly known as black bone disease.
A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria.
The former regional officer, from Childwall, Liverpool, suffers from Alkaptonuria - a rare form of arthritis affecting only 50 people in the world.
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.
Alkaptonuria affects around one in every 250,000 people but most are not diagnosed.
SCIENTISTS at the University of Liverpool have received pounds 500,000 to develop a treatment for the rare, genetic disease Alkaptonuria.
Mr Laxon, an ex-Caludon Castle School pupil, was diagnosed with the condition alkaptonuria when he was just a few weeks old.
LIVERPOOL charity the Alkaptonuria Society is to benefit from a donation from betting firm Betonmarkets.