alkaptonuria


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Noun1.alkaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urinealkaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
metabolic disorder - a disorder or defect of metabolism
Translations

alkaptonuria

n alcaptonuria
References in periodicals archive ?
The former regional officer, of Childwall, Liverpool, suffers from alkaptonuria, a rare degenerative arthritis of the joints affecting only 50 people in the world.
Until a few years ago Simon was one of only six people in the UK diagnosed with alkaptonuria, commonly known as black bone disease.
Alkaptonuria is where a person does not have enough of an enzyme called Hgao and toxic black deposits of acid build up in the joint cartilage and skin,causing permanent damage.
The facility based at the Royal Liverpool Hospital will help patients with AKU (Alkaptonuria) - an inherited condition which can lead to a range of conditions like severe osteoarthritis, heart problems and kidney infections.
Mr Laxon, an ex-Caludon Castle School pupil, was diagnosed with the condition alkaptonuria when he was just a few weeks old.
Among the abnormal samples were the following: 14 with propionic acidemia; 11 with methylmalonic aciduria; 11 with cystinuria; 6 with alkaptonuria; 4 with glutaric aciduria I; 3 each with pyruvate decarboxylase deficiency, ketosis, Hartnup disorder, cystinosis, neuroblastoma, phenylketonuria, ethanol toxicity, glycerol kinase deficiency, and hydroxymethylglutaryl-CoA-lyase deficiency; and 2 with carbamoylphosphate synthetase deficiency.
SCIENTISTS at the University of Liverpool have received pounds 500,000 to develop a treatment for the rare, genetic disease Alkaptonuria.
LIVERPOOL charity the Alkaptonuria Society is to benefit from a donation from betting firm Betonmarkets.com.
A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. J Hum Genet 1999;44:79-84.
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.
It is an honour to officially open the Robert Gregory National Alkaptonuria Centre, on his behalf.
The former regional officer, from Childwall, Liverpool, suffers from Alkaptonuria - a rare form of arthritis affecting only 50 people in the world.