The Maternal Phenylketonuria International Study: 1984–2002

Author:

Koch Richard1,Hanley William2,Levy Harvey3,Matalon Kim4,Matalon Reuben4,Rouse Bobbye4,Trefz Frederick5,Güttler Flemming6,Azen Colleen1,Platt Larry7,Waisbren Susan3,Widaman Keith8,Ning Jiaping1,Friedman Eva G.1,de la Cruz Felix9

Affiliation:

1. Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California

2. Hospital for Sick Children, Toronto, Ontario, Canada

3. Children’s Hospital and Medical Center, Boston, Massachusetts

4. Child Development and Genetics Division, University of Texas Medical School, Galveston, Texas

5. Universitat Teubingen, Reutlingen, Germany

6. John F. Kennedy Institute, Glostrup, Denmark

7. UCLA Medical Center, Los Angeles, California

8. University of California, Department of Psychology, Davis, California

9. National Institute of Child Health and Human Development, Bethesda, Maryland

Abstract

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 χ2, 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.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Dent CE. Discussion of paper by Armstrong MD: Relation of biochemical abnormality to development of mental defect in phenylketonuria, in etiologic factors in mental retardation. Ross Laboratories Report of the 23rd Pediatric Research Conference, Nov. 8–9, 1956, Columbus, OH. In The Laboratories. 1957;32–33

2. Mabry CC, Denniston JC, Nelson TL, Choon DS. Maternal phenylketonuria: a cause of mental retardation in children without the metabolic defect. N Engl J Med.1966;269:1404–1408

3. Allan JD, Brown JK. Maternal phenylketonuria and fetal brain damage, an attempt at prevention by dietary control. In: Holt KS, Coffey VP, eds. Some Recent Advances in Inborn Errors of Metabolism. Edinburgh, Scotland: E & S Livingstone; 1968:14–35

4. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia: an international survey of treated and untreated pregnancies. N Engl J Med.1980;303:1202–1208

5. Platt L, Koch R, Azen C, et al. Maternal Phenylketonuria Collaborative Study: obstetric aspects and outcome, the first six years. Am J Obstet Gynecol.1992;166:1150–1160

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