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