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44. Screening for Phenylketonuria

Source: odphp.osophs.dhhs.gov
Topic: Phenylketonuria
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Sort Desciption: Screening for phenylketonuria (PKU) by measurement of phenylalanine ... Phenylketonuria ... Study of Maternal Phenylketonuria, on the other hand, suggests ...

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Burden of Suffering PKU is an inborn error of phenylalanine metabolism that occurs in 1 of every 12,000 births in North America. 1,2 In the absence of treatment during infancy, nearly all persons with this disorder develop severe, irreversible mental retardation. Many also experience neurobehavioral symptoms such as seizures, tremors, gait disorders, athetoid movements, and psychotic episodes with behaviors resembling autism. 3 These clinical manifestations of PKU have rarely developed in children born after the mid-1960s, when routine screening was legislated and early treatment for PKU became common. This has resulted in a cohort of healthy phenylketonuric women who have entered childbearing age. If dietary restriction of phenylalanine is not maintained during pregnancy, these women are at increased risk of giving birth to a child with mental retardation, microcephaly, congenital heart disease, and low birth weight. 4 The incidence of this maternal PKU syndrome is 1 of every 30,00040,000 pregnancies. 5 In the absence of dietary control in women with PKU who become pregnant, it is estimated that exposure of the fetus to the teratogenic effects of maternal hyperphenylalaninemia could result in an increase in the incidence of PKU-related mental retardation to the level seen before PKU screening was established. 6 Accuracy of Screening Tests Blood phenylalanine determination by the Guthrie test has been the principal screening test for ...

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