Maternal phenylketonuria

Objective. To provide information on the history of maternal phenylketonuria. Methods. A review of the literature and personal observations were conducted. Results. Compilation of sequential information about the development of our understanding of maternal PKU was produced. Conclusions. The history of maternal PKU reflects continuous additions to our understanding of this teratogenic syndrome.

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Pregnancy Experiences in the Woman With Mild Hyperphenylalaninemia

PEDIATRICS ◽

10.1542/peds.112.s4.1548 ◽

2003 ◽

Vol 112 (Supplement_4) ◽

pp. 1548-1552

Author(s):

Harvey L. Levy ◽

Susan E. Waisbren ◽

Flemming Güttler ◽

William B. Hanley ◽

Reuben Matalon ◽

...

Keyword(s):

Congenital Heart Disease ◽

Head Circumference ◽

Congenital Heart ◽

Collaborative Study ◽

Dietary Therapy ◽

Maternal Phenylketonuria ◽

Phenylalanine Level ◽

Live Births ◽

Normal Limits ◽

Z Scores

Objective. A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report. Methods. Enrolled pregnancies in which the untreated prepregnancy assigned phenylalanine level (APL) was no more than 600 μmol/L were included in the Maternal PKU Collaborative Study and were followed according to protocol. Results. Forty-eight enrolled women with non-PKU MHP had mean APL 408 ± 114 μmol/L. They had a total of 58 pregnancies that resulted in live births. Fifty were untreated. Maternal phenylalanine (Phe) levels in the untreated pregnancies decreased during pregnancy for average Phe exposure of 270 ± 84 μmol/L, virtually identical to the level of 269 ± 136 μmol/L in the 8 treated pregnancies. Birth measurements in the 50 offspring from untreated pregnancies were within normal limits with z scores of −0.25 for weight, 0.28 for length, and −0.63 for head circumference, although birth head circumference was negatively correlated with maternal APL (r = −0.30). Only 1 offspring had congenital heart disease. Offspring IQ was 102 ± 15 compared with 96 ± 14 in the mothers with untreated pregnancies and with 109 ± 21 in control offspring. Conclusion. Maternal non-PKU MHP no more than 600 μmol/L does not require dietary therapy. The naturally lower Phe level during pregnancy seems to protect against teratogenesis.

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The Maternal Phenylketonuria International Study: 1984–2002

PEDIATRICS ◽

10.1542/peds.112.s4.1523 ◽

2003 ◽

Vol 112 (Supplement_4) ◽

pp. 1523-1529 ◽

Cited By ~ 1

Author(s):

Richard Koch ◽

William Hanley ◽

Harvey Levy ◽

Kim Matalon ◽

Reuben Matalon ◽

...

Keyword(s):

Outcome Measures ◽

Birth Outcomes ◽

International Study ◽

Care Program ◽

Nonparametric Test ◽

Maternal Blood ◽

Fetal Outcome ◽

Dietary Control ◽

Maternal Phenylketonuria ◽

Restricted Diet

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.

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