alcaptonuria


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Related to alcaptonuria: tyrosinemia, ochronosis

al·cap·ton·u·ri·a

, alkaptonuria (al-kap-ton-yū'rē-ă), [MIM*203500]
Excretion of homogentisic acid (alkapton) in the urine resulting from congenital lack of the enzyme homogentisate 1,2-dioxygenase, which mediates an essential step in the catabolism of phenylalanine and tyrosine; urine turns dark if it is allowed to stand or is alkalinized (a result of formation of polymerization products of homogentisic acid); frequently occurs throughout relatively long periods or may appear at irregular intervals; arthritis and ochronosis are late complications; autosomal recessive inheritance; caused by mutation in the homogentisate 1,2-dioxygenase gene (HGD) on chromosome 3q.
[alkapton + G. ouron, urine]

alcaptonuria

Alkaptonuria, see there.

al·cap·to·nu·ri·a

, alkaptonuria (al-kap'tŏ-nyūr'ē-ă)
Excretion of homogentisic acid (alkapton) in the urine due to congenital lack of the enzyme homogentisate 1,2-dioxygenase; urine turns dark if allowed to stand; may recur and subside at irregular intervals; arthritis and ochronosis are late complications.
[alkapton + G. ouron, urine]

alcaptonuria, alkaptonuria

excretion in the urine of homogentisic acid and its oxidation products as a result of a genetic disorder of phenylalanine-tyrosine metabolism in humans and orang-utans.
References in periodicals archive ?
Marcet's "Account of a Singular Variety of Urine, which Turned Black soon after being Discharged" (19) was the earliest description of a case of alcaptonuria in a male infant 17 months of age.
This approach was extended by William Prout, who at Marcet's request had analyzed the black urine in the earliest description of alcaptonuria.