Alkaptonuria

Definition: Alkaptonuria

Alkaptonuria

Noun

1. A rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine.

Specialty Definitions: Alkaptonuria

Domain	Definitions
Health	An inborn error of amino acid metabolism resulting from a defect in the enzyme homogentisate 1,2-dioxygenase and causing an accumulation of homogentisic acid in the urine. The condition is characterized by ochronosis in various tissues and arthritis. (references)
Source: compiled by the editor from various references; see credits.

Specialty Definition: Alkaptonuria

Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited, genetic disorder of tyrosine metabolism. This is an autosomal recessive trait that is caused by defect in the enzyme homogentisic acid oxidase.

The characteristic of alkaptonuria is that urine exposed to air turn dark (or black) after several hours. In adulthood persons suffering from alkaptonuria develop progressive arthritis (especially of the spine). This is caused by accumulation of a by-product, homogentisic acid, that is excreted in urine and damages bones and cartilages.

Prevention is not possible and the treatment is aimed at ameliorating symptoms.

Frequency of Internet Keywords: Alkaptonuria

Modern Translations: Alkaptonuria

Language		Translations for "alkaptonuria"; alternative meanings/domain in parentheses.
Danish		homogentisinsyre (homogentisuria). (various references)

Dutch		alkaptonurie (homogentisuria), alkaptonuria (homogentisuria), alcaptonurie (homogentisuria), alcaptonuria (homogentisuria), homogentisurie (homogentisuria), homogentisuria (homogentisuria). (various references)

French		alcaptonurie. (various references)

German		Alkaptonurie, Homogentisinurie (homogentisuria). (various references)

Italian		omogentisuria (homogentisuria). (various references)

Pig Latin		alkaptonuriaay

Portuguese		homogentisúria (homogentisuria). (various references)

Spanish		alcaptonuria (homogentisuria), homogentisinuria (homogentisuria). (various references)
Source: compiled by the editor from various translation references.

Anagrams: Alkaptonuria

Scrabble® Enable2K-Verified Anagrams
	Words within the letters "a-a-a-i-k-l-n-o-p-r-t-u"
	-3 letters: tarpaulin.
	-4 letters: notarial, paranoia, patronal, planaria, rataplan, rational, talapoin, troupial, unipolar.
	-5 letters: alation, atropin, latakia, lupanar, natural, nuptial, opuntia, outlain, outplan, outrank, palikar, partial, plantar, platina, puritan, purloin, rainout, talaria, unplait, utopian.
Source: compiled by the editor from various references; see credits. SCRABBLE® is a registered trademark. All intellectual property rights in and to the game are owned in the U.S.A and Canada by Hasbro Inc., and throughout the rest of the world by J.W. Spear & Sons Limited of Maidenhead, Berkshire, England, a subsidiary of Mattel Inc. Mattel and Spear are not affiliated with Hasbro.