- n.an inherited defect of protein metabolism (see inborn error of metabolism) causing an excess of the amino acid phenylalanine in the blood, which damages the nervous system and leads to severe mental retardation. Screening of newborn infants by testing a blood sample for phenylalanine (see Guthrie test) enables the condition to be detected soon enough for dietary treatment to prevent any brain damage: the baby's diet contains proteins from which phenylalanine has been removed. The gene responsible for phenylketonuria is recessive, so that a child is affected only if both parents are carriers of the defective gene.
The new mediacal dictionary. 2014.
Look at other dictionaries:
phenylketonuria — phenylketonuria. См. болезнь Феллинга. (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.
phenylketonuria — [fen΄əl kēt΄ə noor′ē ə, fen΄əl kēt΄ōnyoor′ē ə; fē΄nəlkēt΄ō noor′ē ə, fē΄nəlkēt΄ō nyoor ē ə] n. [ PHENYL + KETONURIA] a genetic disorder of phenylalanine metabolism, which, if untreated, causes severe mental retardation in infants through the… … English World dictionary
Phenylketonuria — PKU redirects here. For other uses, see PKU (disambiguation). Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 … Wikipedia
phenylketonuria — phenylketonuric, adj. /fen l kee toh noor ee euh, nyoor , feen /, n. Pathol. an inherited disease due to faulty metabolism of phenylalanine, characterized by phenylketones in the urine and usually first noted by signs of mental retardation in… … Universalium
phenylketonuria — Autosomal recessively inherited inborn error of metabolism of phenylalanine characterized by deficiency of 1) phenylalanine hydroxylase [MIM*261600] caused by mutation in the phenylalanine hydroxylase gene ( … Medical dictionary
Phenylketonuria — (PKU) In 1934, Norwegian biochemist Ivor Asbjorn Folling (1888–1973) discovered, in research published in Hoppe Seyler’s Zeitschrift für physiologische Chemie, that a cause of mental retardation one of the so called inborn errors of… … Historical dictionary of Psychiatry
phenylketonuria — noun Etymology: New Latin, from International Scientific Vocabulary phenyl + ketone + New Latin uria Date: 1935 an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its metabolites in the… … New Collegiate Dictionary
phenylketonuria — Congenital absence of phenylalanine hydroxylase (an enzyme that converts phenylalanine into tyrosine). Phenylalanine accumulates in blood and seriously impairs early neuronal development. The defect can be controlled by diet and is not serious if … Dictionary of molecular biology
phenylketonuria — noun a metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine Syn: PKU … Wiktionary
phenylketonuria — n. hereditary disease in which the body does not produce the enzyme needed to break down phenylalanine (Medicine) … English contemporary dictionary