phenylketonuria


phenylketonuria
/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 infancy. Also called phenylpyruvic oligophrenia.
[1930-35; < NL; see PHENYL, KETONE, -URIA]

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      hereditary inability of the body to metabolize the amino acid phenylalanine. Phenylalanine is normally converted in the human body to tyrosine, another amino acid, by a specific organic catalyst, or enzyme, called phenylalanine hydroxylase. This enzyme is not active in individuals who have phenylketonuria. As a result of this metabolic block, abnormally high levels of phenylalanine accumulate in the blood, cerebrospinal fluid, and urine. Abnormal products of phenylalanine breakdown, such as highly reactive ketone compounds, can also be detected in the urine.

      Excess phenylalanine and its abnormal metabolites interfere with various metabolic processes in the central nervous system (nervous system disease) that lead to decreased production of neurotransmitters (neuronal signaling molecules) such as dopamine. The first behavioral signs of nerve cell damage are usually evident in an affected child within four to six months of birth. Older individuals with phenylketonuria often have some degree of nerve demyelination (destruction of the myelin sheath that surrounds nerve fibres) that causes progressive symptoms of cognitive dysfunction, including mental retardation, epileptic seizures, and abnormal brain activity. The retention of phenylalanine in other tissues also leads to a decrease in the formation of melanin, a product of tyrosine metabolism that produces the pigment found in the skin, hair, and eyes. This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin.

      Phenylketonuria is transmitted by an autosomal recessive gene, which is present in about 1 in every 60 people. Statistically, two unaffected carriers of the gene can expect a 25 percent chance of having a child who is phenylketonuric, a 50 percent chance of having a child who is unaffected but is a carrier, and a 25 percent chance of having a completely normal child. Reliable tests are available to detect carriers of phenylketonuria, as well as infants who have the disorder. Approximately 1 in 12,000 to 15,000 newborn infants will show abnormally high plasma phenylalanine levels; out of these, about two-thirds will have the classic form of phenylketonuria.

      The remainder of individuals affected by phenylketonuria have deficiencies in tetrahydrobiopterin (or BH4), a chemical cofactor required for phenylalanine hydroxylase activity. Autosomal recessive defects in enzymes that synthesize tetrahydrobiopterin or that restore its catalytic activity can lead to a general disorder called hyperphenylalaninemia, characterized by abnormally high levels of phenylalanine in the blood and urine. The symptoms of hyperphenylalaninemia include impaired cognitive function, seizures, and behavioral and developmental abnormalities that may become apparent within months of birth.

      The most effective treatment of phenylketonuria is maintenance of a diet low in phenylalanine. Such a diet is achieved by avoiding meat, dairy, and other foods high in protein. Intake of nutrients normally supplied by these foods is provided instead by special phenylalanine-free protein drinks. Pregnant women who have phenylketonuria must maintain a phenylalanine-restricted diet because the abnormally high levels of phenylalanine in their blood can severely damage an unborn child. While there are no drugs effective in treating classical phenylketonuria, a drug called Kuvan (sapropterin dihydrochloride), a synthetic form of tetrahydrobiopterin, is effective in treating some individuals with forms of hyperphenylalaninemia that are associated with deficiencies in tetrahydrobiopterin. Individuals taking Kuvan are instructed to remain on a phenylalanine-restricted diet.

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Universalium. 2010.

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.

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  • Phenylketonuria — PKU redirects here. For other uses, see PKU (disambiguation). Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 …   Wikipedia

  • 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 — 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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