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.