phenylketonurian.

Brit.

/ˌfiːnʌɪlˌkiːtəˈnjʊərɪə/,

/ˌfɛnʌɪlˌkiːtəˈnjʊərɪə/, U.S.

/ˈˌfɛnəlˌkitnˈ(j)ʊriə/,

/ˈˌfinəlˌkitnˈ(j)ʊriə/; see also phenyl n.

Origin: Formed within English, by compounding. Etymons: phenyl n., ketonuria n.

Etymology: < phenyl n. + ketonuria n.

Medicine.

An inherited (autosomal recessive) disorder of amino acid metabolism in which deficiency of the enzyme phenylalanine 4-monooxygenase leads to the accumulation of phenylalanine and various other metabolites in the body (with excessive excretion of phenylpyruvic acid in the urine), resulting in mental retardation and other neurological and dermatological abnormalities if untreated by dietary restriction. Abbreviated PKU.A syndrome very similar to phenylketonuria can also be produced by inherited deficiencies of certain other enzymes involved in phenylalanine metabolism.

ΘΚΠ

the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [noun] > other metabolic disorders

xanthomatosis1900

Tay-Sachs1907

ketosis1917

protein shock1917

hyperinsulinism1924

Niemann–Pick1928

tyrosinosis1932

von Gierke's disease1933

phenylketonuria1935

cystic fibrosis1938

mucoviscidosis1945

cystinosis1949

oxalosis1952

McArdle1957

orotic aciduria1959

PKU1961

sphingolipidosis1962

Reye's syndrome1965

Menkes1969

1935 Lancet 27 July 192/2 Phenylpyruvic amentia, more conveniently termed phenylketonuria.

1935 Lancet 27 July 193/1 Dr. J. H. Quastel..suggested the name phenylketonuria.

1958 Observer 23 Mar. 9/8 An estimated 30 babies are born every year with an unsuspected ‘metabolic’ disorder called phenylketonuria.

1965 New 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.

1977 Jrnl. Royal Soc. Arts 125 186/2 The ‘inborn error of metabolism’, phenylketonuria..is a simply inherited defect which causes mental retardation, due to accumulation of toxic products from birth onwards.

1995 Independent 14 Feb. 25/4 Our healthy and extremely cheerful two-year-old has phenylketonuria (PKU to those who have to say it every day): his liver lacks sufficient quantities of an enzyme that breaks down phenylalanine, one of the major constituents of protein.

This entry has been updated (OED Third Edition, December 2005; most recently modified version published online March 2022).

单词	phenylketonuria
释义	phenylketonurian. Brit. /ˌfiːnʌɪlˌkiːtəˈnjʊərɪə/, /ˌfɛnʌɪlˌkiːtəˈnjʊərɪə/, U.S. /ˈˌfɛnəlˌkitnˈ(j)ʊriə/, /ˈˌfinəlˌkitnˈ(j)ʊriə/; see also phenyl n. Origin: Formed within English, by compounding. Etymons: phenyl n., ketonuria n. Etymology: < phenyl n. + ketonuria n. Medicine. An inherited (autosomal recessive) disorder of amino acid metabolism in which deficiency of the enzyme phenylalanine 4-monooxygenase leads to the accumulation of phenylalanine and various other metabolites in the body (with excessive excretion of phenylpyruvic acid in the urine), resulting in mental retardation and other neurological and dermatological abnormalities if untreated by dietary restriction. Abbreviated PKU.A syndrome very similar to phenylketonuria can also be produced by inherited deficiencies of certain other enzymes involved in phenylalanine metabolism. ΘΚΠ the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [noun] > other metabolic disorders xanthomatosis1900 Tay-Sachs1907 ketosis1917 protein shock1917 hyperinsulinism1924 Niemann–Pick1928 tyrosinosis1932 von Gierke's disease1933 phenylketonuria1935 cystic fibrosis1938 mucoviscidosis1945 cystinosis1949 oxalosis1952 McArdle1957 orotic aciduria1959 PKU1961 sphingolipidosis1962 Reye's syndrome1965 Menkes1969 1935 Lancet 27 July 192/2 Phenylpyruvic amentia, more conveniently termed phenylketonuria. 1935 Lancet 27 July 193/1 Dr. J. H. Quastel..suggested the name phenylketonuria. 1958 Observer 23 Mar. 9/8 An estimated 30 babies are born every year with an unsuspected ‘metabolic’ disorder called phenylketonuria. 1965 New 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. 1977 Jrnl. Royal Soc. Arts 125 186/2 The ‘inborn error of metabolism’, phenylketonuria..is a simply inherited defect which causes mental retardation, due to accumulation of toxic products from birth onwards. 1995 Independent 14 Feb. 25/4 Our healthy and extremely cheerful two-year-old has phenylketonuria (PKU to those who have to say it every day): his liver lacks sufficient quantities of an enzyme that breaks down phenylalanine, one of the major constituents of protein. This entry has been updated (OED Third Edition, December 2005; most recently modified version published online March 2022). < n.1935
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