This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Koch, R. Articles by de la Cruz, F. Search for Related Content PubMed PubMed Citation Articles by Koch, R. Articles by de la Cruz, F. Related Collections Genetics & Dysmorphology Social Bookmarking                         What's this?

PEDIATRICS Vol. 112 No. 6 December 2003, pp. 1519-1522

SUPPLEMENT ARTICLE

Research Design, Organization, and Sample Characteristics of the Maternal PKU Collaborative Study

Richard Koch, MD^*, Colleen Azen, MS^*, Eva Friedman, MS^*, William Hanley, MD, Harvey Levy, MD, Reuben Matalon, MD, PhD^||, Bobbye Rouse, MD^||, Friedrich Trefz, MD^¶, Jiaping Ning, MS^* and Felix de la Cruz, MD, MPH^#

^* Childrens Hospital Los Angeles, Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California
Clinical and Biochemical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Children’s Hospital Boston, Boston, Massachusetts
^|| University of Texas Medical Branch, Department of Pediatrics/Genetics, Galveston, Texas
^¶ Childrens Hospital Reutlingen, Universität of Tubingen, Reutlingen, Germany
^# National Institute of Child Health and Human Development, Bethesda, Maryland

Objective. The Maternal PKU Collaborative Study (MPKUCS) was initiated in 1984 by the National Institute of Child Health and Human Development (NICHD). The purpose was to assess the efficacy of dietary restriction of phenylalanine in reducing morbidity in offspring of women with hyperphenylalaninemia (HPA). A contract was awarded to Childrens Hospital Los Angeles as the Coordinating Center to provide implementation of the research protocol, data collection, and analysis.

Methods. The Study included four regional contributing centers: Childrens Hospital Los Angeles (Western Region), Boston Children’s Hospital (Northeast Region), University of Illinois (Midwest Region), and University of Texas Medical Branch, Galveston (Southeast Region). Within each region, many participating clinics were responsible for obstetric care, treatment, and monitoring protocols. In 1985, Canada joined the MPKUCS, and in 1992, Germany entered. They were selected because they provided dietary supplies and strong professional services. Acquisition began in 1984 and ended in October 1995. The study included 574 pregnancies in women with HPA and 100 control subjects matched on age, race, parity, and weeks of gestation. The sample included women with blood phenylalanine values >240 µmol/L, 66% of whom had classical PKU, 22% had atypical PKU, and 12% had mild HPA. Informed consents were obtained on all participants. The women ranged in age from 15 to 36 years of age, with a mean age at conception of 23 years. Teenage pregnancies accounted for 19%. Seventy-five percent graduated from high school. Offspring included 416 newborns, 317 of whom were evaluated at 4 years of age and 289 at 6 to 7 years. Follow-up involved medical, nutritional, psychosocial, and psychological assessments.

Conclusion. Women with PKU treated before conception and in control of their blood phenylalanine levels between 120 and 360 µmol/L (2–6 mg) exhibited normal pregnancies and neonatal outcome. Surprisingly, women who achieved control in the recommended range by 8 weeks of pregnancy also had a normal fetal outcome.

---

Abbreviations: PKU, phenylketonuria • NIH, National Institutes of Health • NICHD, National Institute of Child Health and Development • Phe, phenylalanine • HPA, hyperphenylalaninemia • MPKUCS, Maternal PKU Collaborative Study • WISC-R, Wechsler Intelligence Scale for Children–Revised

---

CiteULike    Connotea    Del.icio.us    Digg    Facebook    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				Committee on Genetics Maternal Phenylketonuria Pediatrics, August 1, 2008; 122(2): 445 - 449. [Abstract] [Full Text] [PDF]