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.

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References in periodicals archive ?

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.

Por los antecedentes de discopatia lumbar de dificil tratamiento, con informe en las imagenes de discos negros; los hallazgos artroscopicos de necrosis del cartilago, descrito como "cartilago negro"; la agenesia dental, la orina oscura desde la infancia, la pigmentacion de los cartilagos de los pabellones auriculares, y la consanguinidad entre los padres y abuelos se sospecho una alcaptonuria.

Espondiloartropatia ocronotica: reporte de un caso

Alcaptonuria, ochronosis, arthritis and ruptured intervertebral disc complicated by homologous serum reaction.

Dura Mater Involvement in Ochronosis (Alkaptonuria)

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.

The chemical work of Alexander and Jane Marcet

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.