期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 45, 期 6, 页码 1070-1081出版社
WILEY
DOI: 10.1002/jimd.12544
关键词
maternal phenylketonuria syndrome; MPKUS; phenylalanine-induced embryofetopathy; preconceptual dietary training; pregnancy
资金
- Nestle Health Science
This study evaluated the feasibility and effectiveness of treatment recommendations for pregnant women with phenylketonuria (PKU) and identified factors influencing maternal metabolic control and children's outcome. Good metabolic control during pregnancy is crucial to prevent maternal PKU syndrome in offspring.
To prevent maternal phenylketonuria (PKU) syndrome low phenylalanine concentrations (target range, 120-360 mu mol/L) during pregnancy are recommended for women with PKU. We evaluated the feasibility and effectiveness of current recommendations and identified factors influencing maternal metabolic control and children's outcome. Retrospective study of first successfully completed pregnancies of 85 women with PKU from 12 German centers using historical data and interviews with the women. Children's outcome was evaluated by standardized IQ tests and parental rating of child behavior. Seventy-four percent (63/85) of women started treatment before conception, 64% (54/85) reached the phenylalanine target range before conception. Pregnancy planning resulted in earlier achievement of the phenylalanine target (18 weeks before conception planned vs. 11 weeks of gestation unplanned, p < 0.001) and lower plasma phenylalanine concentrations during pregnancy, particularly in the first trimester (0-7 weeks of gestation: 247 mu mol/L planned vs. 467 mu mol/L unplanned, p < 0.0001; 8-12 weeks of gestation: 235 mu mol/L planned vs. 414 mu mol/L unplanned, p < 0.001). Preconceptual dietary training increased the success rate of achieving the phenylalanine target before conception compared to women without training (19 weeks before conception vs. 9 weeks of gestation, p < 0.001). The majority (93%) of children had normal IQ (mean 103, median age 7.3 years); however, IQ decreased with increasing phenylalanine concentration during pregnancy. Good metabolic control during pregnancy is the prerequisite to prevent maternal PKU syndrome in the offspring. This can be achieved by timely provision of detailed information, preconceptual dietary training, and careful planning of pregnancy.
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