The Maternal Phenylketonuria International Study: 1984-2002.
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 chi2, 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 micromol/L were achieved by 8 to 10 weeks of gestation and maintained throughout pregnancy (trimester averages of 600 micromol/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.
Koch
Richard
R
Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California 90027, USA. rkoch8@earthlink.net
Hanley
William
W
Levy
Harvey
H
Matalon
Kim
K
Matalon
Reuben
R
Rouse
Bobbye
B
Trefz
Frederick
F
Güttler
Flemming
F
Azen
Colleen
C
Platt
Larry
L
Waisbren
Susan
S
Widaman
Keith
K
Ning
Jiaping
J
Friedman
Eva G
EG
de la Cruz
Felix
F
D000704:Analysis of Variance; D001724:Birth Weight; D002648:Child; D002675:Child, Preschool; D005314:Embryonic and Fetal Development; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007360:Intelligence; D016015:Logistic Models; D010649:Phenylalanine / Q000097:blood; D017042:Phenylketonuria, Maternal / Q000097:blood / Q000178:diet therapy*; D010661:Phenylketonurias / Q000178:diet therapy; D011247:Pregnancy; D011256:Pregnancy Outcome; D011295:Prenatal Care; D018709:Statistics, Nonparametric
D010649:Phenylalanine