alcaptonuria, alkaptonuria
Excretion of homogentisic acid (alkapton) in the urine due to 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 allowed to stand or is alkalinized (a result of formation of polymerization products of homogentisic acid); frequently occurs throughout relatively long periods or may recur and subside 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]

Medical dictionary. 2011.

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  • Алкаптонурия (Alcaptonuria, Alkaptonuria) — врожденное отсутствие фермента оксидазы гомогентизиновой кислоты, играющего существенную роль в процессе нормального расщепления аминокислот тирозина и фенилаланина. Накопление гомогентизиновой кислоты в организме человека вызывает потемнение… …   Медицинские термины

  • Alcaptonuria — Ácido homogentísico Clasificación y recursos externos CIE 10 E70,2 …   Wikipedia Español

  • alcaptonuria — (alkaptonuria) n. the congenital absence of an enzyme, homogentisic acid oxidase, that is essential for the normal breakdown of the amino acids tyrosine and phenylalanine. Accumulation of homogentisic acid causes dark brown discoloration of the… …   Medical dictionary

  • alcaptonuria — alkaptonuria; n. the congenital absence of an enzyme, homogentisic acid oxidase, that is essential for the normal breakdown of the amino acids tyrosine and phenylalanine. Accumulation of homogentisic acid causes dark brown discoloration of the… …   The new mediacal dictionary

  • Alkaptonuria — Infobox Disease Name = PAGENAME Caption = Homogentisic acid Width = 180 DiseasesDB = 409 ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 203500 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 64 MeshID = D000474 Alkaptonuria (black… …   Wikipedia

  • alcaptonuria — noun a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine • Syn: ↑alkaptonuria • Hypernyms: ↑metabolic disorder * * * variant of alkaptonuria * * * alcapton, alcaptonuria see alkapton …   Useful english dictionary

  • alcaptonuria — Eng. Alkaptonuria Alteración del metabolismo de tirosina bloqueándose la vía metabólica al nivel del ácido homogentísico, que se acumula en el organismo. A nivel ocular este acúmulo de pigmento se manifiesta como una coloración oscura de esclera …   Diccionario de oftalmología

  • alkaptonuria — al·kap·ton·uria or al·cap·ton·uria (.)al .kap tə n(y)u̇rē ə n a rare recessive metabolic anomaly in humans marked by inability to complete the degradation of tyrosine and phenylalanine resulting in the presence of alkapton in the urine * * * n.… …   Medical dictionary

  • alkaptonuria — n.; see alcaptonuria …   The new mediacal dictionary

  • alkaptonuria — noun a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine • Syn: ↑alcaptonuria • Hypernyms: ↑metabolic disorder * * * /al kap teuh noor ee euh, nyoor /, n. Pathol. excessive excretion of homogentisic… …   Useful english dictionary

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