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Clin Perinatol. 2001 Jun;28(2):419-24.

Genetic implications for newborn screening for phenylketonuria.

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  • 1Mental Retardation and Developmental Disabilities Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, USA.


The genetic implications for PKU are similar to those for any inherited disorder, but require an intimate knowledge of the dietary care required by these women. Unfortunately, today most women with PKU have discontinued dietary treatment by adulthood and find the restricted phe diet onerous and difficult. Fortunately, this is changing. "Diet for life" is the usual, although not yet universally, adopted practice today, but even so, there are women who conceive "off diet." This inhibits intellectual development of the fetus. If intensive services are provided for such women, fetal outcome can be improved by good blood phe control between 120 and 360 uM/L. Although prenatal diagnosis is available by fetal mutation studies, many women today resist the benefits of genetic counseling. Unfortunately, insurance companies often are unwilling to pay for such procedures as mutation analysis or the provision of low phe diets. Overall, public policy for the care of women with genetic disorders is in a state of flux and strong leadership is required to improve services.

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