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PEDIATRICS Vol. 112 No. 6 December 2003, pp. 1523-1529

SUPPLEMENT ARTICLE

The Maternal Phenylketonuria International Study: 1984–2002

Richard Koch, MD^*, William Hanley, MD, Harvey Levy, MD, Kim Matalon, RD, PhD^||, Reuben Matalon, MD, PhD^||, Bobbye Rouse, MD^||, Frederick Trefz, MD^¶, Flemming Güttler, MD, PhD^#, Colleen Azen, MS^*, Larry Platt, MD^**, Susan Waisbren, PhD, Keith Widaman, PhD, Jiaping Ning, MS^*, Eva G. Friedman, BA^* and Felix de la Cruz, MD, MPH

^* Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California
Hospital for Sick Children, Toronto, Ontario, Canada
Children’s Hospital and Medical Center, Boston, Massachusetts
^|| Child Development and Genetics Division, University of Texas Medical School, Galveston, Texas
^¶ Universitat Teubingen, Reutlingen, Germany
^# John F. Kennedy Institute, Glostrup, Denmark
^** UCLA Medical Center, Los Angeles, California
University of California, Department of Psychology, Davis, California
National Institute of Child Health and Human Development, Bethesda, Maryland

Objective. The purpose of this report is to review the obstetric medical, psychological, and nutritional aspects and outcome of the women and offspring enrolled in the Maternal Phenylketonuria Study, which was established to assess the efficacy of a phenylalanine (Phe)-restricted diet in preventing the morbidity associated with this disorder.

Methods. A total of 382 women with hyperphenylalaninemia (HPA) were enrolled in the study and completed 572 pregnancies. Outcome measures were analyzed with ², Fisher exact text, analysis of variance, t test, Wilcoxon nonparametric test, and multiple logistic regression. Outcome measures were stratified according to maternal HPA classification and the time when dietary control was achieved.

Results. Optimal birth outcomes occurred when maternal blood Phe levels between 120 and 360 µmol/L were achieved by 8 to 10 weeks of gestation and maintained throughout pregnancy (trimester averages of 600 µmol/L). Mothers with mild HPA achieved similar birth outcomes as mothers who were in control preconceptually and those in control by 8 to 10 weeks of pregnancy.

Conclusions. Before conception, counseling and early entrance into a prenatal care program is essential in achieving optimal fetal outcome in women with HPA. The achievement of pre- and periconceptional dietary control with a Phe-restricted diet significantly decreased morbidity in the offspring of women with HPA.

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Abbreviations: MPKUS, Maternal PKU Collaborative Study • Phe, phenylalanine • HPA, hyperphenylalaninemia • WISC-R, Wechsler Intelligence Scale for Children–Revised • CHD, congenital heart disease • PKU, phenylketonuria

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