| 释义 |
alcaptonuriaenUK
Thesaurus| Noun | 1. |  alcaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urinealkaptonuriametabolic disorder - a disorder or defect of metabolism |
alcaptonuriaenUK
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]alcaptonuriaenUK
Related to alcaptonuria: tyrosinemia, ochronosisSynonyms for alcaptonurianoun a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urineSynonymsRelated Words |