phenylketonuria
The Columbia Encyclopedia, Sixth Edition
phenylketonuria (PKU), inherited metabolic disorder caused by a deficiency in a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and almost always leads to mental retardation and schizoid changes when phenylalanine levels rise; convulsions also commonly occur. Early diagnosis and treatment, which includes a carefully regulated low-phenylalanine diet begun during the first few weeks of life, may prevent serious mental deficiency. Positive improvement has been seen even when therapy is started in well-established cases. In 2007 the FDA approved the use of sapropterin dihydrochloride as a treatment. The drug can boost the ability of persons with low levels of phenylalanine hydroxylase to break down phenylalanine but will not help those who lack the enzyme. Most states have made the PKU blood or urine test mandatory for all newborn infants.
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The Columbia Encyclopedia, Sixth Edition. Copyright 2008 Columbia University Press
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phenylketonuria
phenylketonuria A genetic disease affecting the metabolism of phenylalanine . Phenylalanine is normally metabolized to tyrosine...disruption of brain development, and if untreated there is severe mental retardation. All infants are screened for phenylketonuria shortly after birth (by measurement of plasma ...
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phenylketonuria
phenylketonuria (PKU) (fee-nyl-kee-tŏn- yoor -iă) n. an inherited defect of protein metabolism (see inborn error of metabolism...phenylalanine in the blood, which damages the nervous system and leads to severe mental retardation. The gene responsible for phenylketonuria is recessive, so that a child is ...
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