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 ?
The charity aims to create the world's first centre of excellence for alkaptonuria in Liverpool and raise awareness about the little-known condition amongst doctors and haematologists.
Mr Gregory,54,from Huyton, suffers from alkaptonuria -a form of arthritis which affects about 50 people in Britain.
The research will be funded by the Alkaptonuria Society following its successful bid to the Big Lottery Fund.
Robert Gregory, 63, from Childwall, has a debilitating condition called Alkaptonuria which is known as Black Bone Disease because it makes sufferers bone go black and brittle.
The other new acid was discovered in 1822 when Marcet gave him a sample of urine that had turned black (alkaptonuria).
Alkaptonuria affects around one in every 250,000 people but most are not diagnosed.
The British physician, Sir Archibald Garrodis entitled as father of "inborn errors of metabolism" for his pioneering work in revealing the biochemical basis of alkaptonuria in the early 20th century [1].
The hyperphenylalaninemias and alkaptonuria. In: Goldman L, Bennett JC, editors.
The differential diagnoses consist of metabolic disorders (hyperparathyroidism, homocystinuria, alkaptonuria, and acromegaly), arthritis (ankylosing spondylitis, gout, and pseudogout), amyloidosis, and rarely disc hemorrhage in hemochromatosis.
Alkaptonuria (AKU) is a rare autosomal recessive disorder that results from a deficiency of the homogentisic acid dioxygenase (HGD) activity, which is the third enzyme in tyrosine degradation.
First of all, the disease known as alkaptonuria was discovered by Archibald Garrod, in 1908 [8,9] followed by a research in 1917 regarding the advice of less intake of the milk by the galactosemic infants, but the treatment of various disorders of IEM changed in the 1950s with phenylketonuria.
Other diseases (n=10) were also detected on the basis of their pathognomics metabolites and included tyrosinemia type 1 (n=4), alkaptonuria (n=5) and ornithine transcarbamoylase deficiency (n=1).
Alkaptonuria (AKU) was historically used by Archibald Garrod in his lectures in 1908.
The facility based at the Royal Liverpool Hospital, left, was to help patients with AKU (Alkaptonuria), an inherited condition which can lead to a range of conditions like severe osteoarthritis, heart problems and kidney infections.