alkaptonuria
Congenital absence of homogentisic acid oxidase, an enzyme that breaks down tyrosine and phenylalanine. Accumulation of homogentisic acid in homozygotes causes brown pigmentation of skin and eyes and damage to joints; urine blackens on standing.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • alkaptonuria — alkaptonuria. См. алкаптонурия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • 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

  • alkaptonuria — /al kap teuh noor ee euh, nyoor /, n. Pathol. excessive excretion of homogentisic acid in the urine, caused by a hereditary abnormality of the metabolism of tyrosine and phenylalanine. [1885 90; ALKAPTON + URIA] * * * ▪ pathology       rather… …   Universalium

  • Alkaptonuria — aminorūgščių statusas T sritis embriologija atitikmenys: lot. Acidi aminoici; Alkaptonuria ryšiai: platesnis terminas – medžiagų apykaitos nepakankamumas sinonimas – alkaptonurija …   Medicininės histologijos ir embriologijos vardynas

  • alkaptonuria — noun A rare inherited genetic disorder of phenylalanine and tyrosine metabolism, causing the accumulation and eventual excretion of alkapton …   Wiktionary

  • 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. disease characterized by alkapton in the urine …   English contemporary dictionary

  • alkaptonuria — al·kap·ton·u·ria …   English syllables

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

  • alkaptonuria — /ælˌkæptəˈnjuriə/ (say al.kaptuh nyoohreeuh) noun a congenital malfunctioning of certain biochemical processes in the body affecting proteins, which results in severe mental impairment …   Australian English dictionary

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