| 释义 |
phenylketonuria Path.|ˌfɛnɪl-, ˌfiːnaɪlkiːtəʊˈnjʊərɪə|
[f. phenyl + ketonuria.]
An inherited inability to metabolize phenylalanine normally, which if untreated in children leads to mental deficiency.
1935Lancet 27 July 192/2 Phenylpyruvic amentia, more conveniently termed phenylketonuria. Ibid. 193/1 Dr. J. H. Quastel..suggested the name phenylketonuria. 1958Observer 23 Mar. 9/8 An estimated 30 babies are born every year with an unsuspected ‘metabolic’ disorder called phenylketonuria. 1958New Biol. XXV. 22 Phenylketonuria is a chemically definable character inherited as a Mendelian recessive, and accounting for perhaps 1 per cent of certifiable mental defect. 1965New Statesman 10 Dec. 922/1 The classic examples here are phenylketonuria and galactosaemia, in which the lack of a single gene means that the body cannot use or break down normal substances in the diet..so that toxic products accumulate and poison the brain. 1970Passmore & Robson Compan. Med. Stud. II. xxv. 40 In phenylketonuria the hereditary deficiency of the enzyme phenylalanine hydroxylase in the liver cells retards or deletes the normal oxidation of phenylalanine to tyrosine. 1977Jrnl. R. Soc. Arts CXXV. 186/2 The ‘inborn error of metabolism’, phenylketonuria..is a simply inherited defect which causes mental retardation, due to accumulation of toxic products from birth onwards.
Hence ˌphenylketoˈnuric n., an individual with phenylketonuria; a., affected with or pertaining to this disorder.
1937Biochem. Jrnl. XXXI. 270 Experiments were carried out..to determine the effects of feeding phenylalanine to a phenylketonuric on a low protein diet. 1961Lancet 26 Aug. 465/2 This suggests that there is no biochemical reason why any phenylketonuric woman should not have normal children. Ibid., Exposure to a phenylketonuric environment while in utero. 1975Nature 4 Dec. 462/3 Even if an observed difference is genetic it does not mean that a trait cannot be altered substantially by an appropriate environmental change. An example is the treatment of phenylketonurics. |