• Neonatal screening for phenylketonuria (PKU) has created an unexpected problem as females with PKU are reaching childbearing age. Surveys have revealed that maternal phenylalanine blood concentrations above 1200 μmol/L are associated with microcephaly, mental retardation, congenital heart defects, and intrauterine growth retardation among their offspring. It is estimated that as many as 3000 hyperphenylalaninemic females may be at risk for producing these fetal abnormalities. To examine this problem, the North American Maternal PKU Collaborative Study has been developed to evaluate the efficacy of a phenylalanine-restricted diet in reducing fetal morbidity. Preliminary findings indicate that phenylalanine restriction should begin before conception for females with PKU planning a pregnancy. Dietary control should maintain maternal blood phenylalanine levels between 120 and 360 μmol/L and should provide adequate energy, protein, vitamin, and mineral intake. Pregnant hyperphenylalaninemic females who achieved metabolic control after conception or by the 10th week of pregnancy had a better offspring outcome than anticipated.
Koch R, Levy HL, Matalon R, Rouse B, Hanley W, Azen C. The North American Collaborative Study of Maternal Phenylketonuria: Status Report 1993. Am J Dis Child. 1993;147(11):1224–1230. doi:10.1001/archpedi.1993.02160350098015
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