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PEDIATRICS Vol. 112 No. 6 December 2003, pp. 1584-1587

SUPPLEMENT ARTICLE

The Maternal Phenylketonuria Project: A Summary of Progress and Challenges for the Future

Joe T.R. Clarke, MD, PhD

From the Division of Clinical and Metabolic Genetics, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada

The results of the International Collaborative Study of Maternal phenylketonuria have shown that dietary phenylalanine restriction of women with hyperphenylalaninemia during pregnancy decreases the incidence of mental retardation, microcephaly, congenital heart disease, and intrauterine growth retardation in their offspring. The best results are achieved when treatment is initiated before conception. Psychosocial problems are the most pervasive obstacle to the achievement of optimum dietary treatment. Novel, nondietary approaches to the treatment of maternal phenylketonuria are under development.

Key Words: maternal PKU • hyperphenylalaninemia • embryopathy • birth defects • health policy

Abbreviations: PKU, phenylketonuria • Phe, phenylalanine • HPA, hyperphenylalaninemia • PAH, phenylalanine hydroxylase • ADHD, attention-deficit/hyperactivity disorder • BH4, tetrahydrobiopterin


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