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 ?
Apart from the dark urine, most of the symptoms of alkaptonuria are not observed until the fourth to fifth decade.
About half of patients with alkaptonuria demonstrate evidence of ochronosis.
Alkaptonuria (AKU) is classed as an ultra rare disease affecting around one in 250,000 to one in a million people worldwide.
During that time Simon did not know anyone else with alkaptonuria, so he searched the internet for information or fellow sufferers.
The AKU Society aims to find an effective treatment and cure for alkaptonuria.
The research will be funded by the Alkaptonuria Society following its successful bid to the Big Lottery Fund.
Mr Gregory,54,from Huyton, suffers from alkaptonuria -a form of arthritis which affects about 50 people in Britain.
The former regional officer, of Childwall, Liverpool, suffers from alkaptonuria, a rare degenerative arthritis of the joints affecting only 50 people in the world.
In a pioneering trial at Royal Liverpool Hospital, patients with alkaptonuria (AKU) - known as black bone disease - are being given a drug called nitisinone.
Focal ligamentum flavum hypertrophy with ochronotic deposits: an unusual cause for neurogenic claudication in alkaptonuria.
Maureen McClure, 62, is the only woman and one of just three people in Scotland with alkaptonuria (AKU) – known as black bone disease.
Nick Sireau, 40, was shocked to discover his boys Julien and Daniel had alkaptonuria - also called black bone disease - which affects just one in 500,000 people.