* Clinical manifestations of alkaptonuria have been well described and...old woman with a history of alkaptonuria who had widespread ochronosis...2001;125:961-963) Ochronosis (alkaptonuria) is an autosomal recessive disorder...

...with rare metabolic errors (congenital lactic acidosis and alkaptonuria) in order to highlight the problems related to diagnosis...diapers in contact with urine. The infant was diagnosed with alkaptonuria using high performance liquid chromatography which revealed...

...issue entitled 'Spontaneous tendon ruptures in alkaptonuria'. The authors have presented one of the rare manifestations of alkaptonuria and have stated that the numerous reports on alkaptonuria are limited to degenerative manifestations in...

Introduction Alkaptonuria is a rare metabolic disease and...homogentisic acid. A diagnosis of alkaptonuria was made on the basis of the bluish...a four-monthly basis. DISCUSSION Alkaptonuria is a very rare disease. (About 1...

Ochronosis (alkaptonuria) is an autosomal recessive disorder...white woman with a known history of alkaptonuria. Her medical history includes hereditary...chemical analysis. The diagnosis of alkaptonuria was confirmed by the presence of...

alkaptonuria n. see alcaptonuria .

...Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of...tendon or tendo Achillis as the first symptom of alkaptonuria. Alkaptonuria is a rare autosomal recessive metabolic disorder...

...Neil Hodgson LIVERPOOL charity the Alkaptonuria Society is to benefit from a donation...between pounds 7,000 and pounds 17,000. Alkaptonuria is a rare genetic disease that results...donate, visit www.just-giving.com/alkaptonuria

...discovery resulted in a diagnosis of alkaptonuria, a rare disease involving buildup of...darken. Estimates of the incidence of alkaptonuria range from one in 250,000 to one in...meaning both parents of a person with alkaptonuria carry the gene for it but have no symptoms...

...deficiency of homogentisic acid oxidase (alkaptonuria). Ultimately, this enzyme deficiency...implications are discussed. Key words: Alkaptonuria, homogentisic acid, ochronosis. Ochronosis...pigment deposition occurs as a result of alkaptonuria. First described in 1866, alkaptonuria...