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]
References in periodicals archive ?
La alcaptonuria puede afectar a los sistemas esqueletico, respiratorio, cardiovascular y genitourinario, asi como a la piel y los ojos.
Si el lenguaje de la medicina fuera logico, esta enfermedad deberia llamarse hoy homogentisuria, pero en la practica ha persistido su antiguo nombre: alcaptonuria. Aunque arcaica, esta denominacion es util porque permite distinguir perfectamente entre alcaptonuria (metabolopatia congenita por deficiencia de la enzima oxidasa del acido homogentisico) y homogentisuria, o sea, eliminacion de acido homogentisico en la orina, signo destacado de la alcaptonuria.
(3.) LaDu B.N., Zannoni V.A., Laster L., Seegmiller J.E., The nature of the defect in tyrosine metabolism in alcaptonuria. J.
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. Prout was the most celebrated of all English animal chemists in the first half of the 19th century (22) and the most successful systematist of the subject before Leibig.
Un punto de referencia es el ano 1908 cuando Sir Archibald Garrod establecio por primera vez una relacion entre quimica y enfermedad tras sus hallazgos en alcaptonuria, cistinuria, albinismo y pentosuria.