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 metabolism"—was a genetic inability to metabolize the amino acid L-phenylalanine. As a result, toxic amounts of a metabolite of phenylalanine accumulated in the brain, causing a disease known as phenylketonuria (PKU)—so-called because the ketone metabolite phenylpyruvic acid in the urine has a peculiar smell and turns green in the presence of ferric chloride (phenylpyruvic acid was known, somewhat cruelly, to insiders as "the idiot acid").
   PKU turned out to have a significant genetic source. In 1935, Lionel S. Penrose (1898–1972), a physician on staff at the Royal Eastern Counties’ Institution at Colchester—an asylum for mental retardation—studied the genetics of mental retardation (MR) by carefully interviewing the families of 1280 patients; in research published in the Lancet in 1935, he found that PKU was inherited as an autosomal recessive trait. In 1953, Horst Bickel (1918–2000)* and co-workers at the Children’s Hospital in Birmingham described in the Lancet the success of a diet low in phenylalanine in reducing PKU. In 1963, Robert Guthrie (1916–1995) at the Children’s Hospital in Buffalo, New York, announced in Pediatrics a simple screeing test for PKU that entailed inhibiting the growth of bacteria. Then, Seymour Kaufman (1924–), chief of the Laboratory of Neurochemistry at the National Institute of Mental Health, wrapped up a virtual lifetime of doing basic research on the biochemistry of PKU by introducing folinic acid in 1987 in the treatment of one form of PKU that is caused by a lacking coenzyme; this research was published in the Journal of Pediatrics. This whole chain of research from Folling’s discovery on has touched off a hunt for other biological causes of mental retardation. (Indeed, some observers consider PKU the only established abnormality in psychiatry.)

Edward Shorter. 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 — 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 …   The new mediacal dictionary

  • 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

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