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Maternal phenylketonuria (PKU)--a review
W B Hanley1, J T Clarke, W Schoonheyt
1Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
Insights
Untreated maternal phenylketonuria (PKU) severely damages fetuses, causing intellectual disability and birth defects. Early dietary intervention significantly reduces these risks, highlighting the need for widespread PKU screening.
Area of Science:
- Medical Genetics
- Maternal-Fetal Medicine
- Metabolic Disorders
Background:
- Maternal phenylketonuria (PKU) presents a significant risk of fetal damage.
- Untreated PKU in mothers leads to high rates of offspring intellectual disability, microcephaly, and congenital anomalies.
Purpose of the Study:
- To review the incidence of fetal damage in maternal PKU.
- To evaluate the effectiveness of dietary interventions for maternal PKU.
- To recommend screening strategies for maternal PKU.
Main Methods:
- Review of existing literature on maternal PKU and its outcomes.
- Analysis of data from treated and untreated maternal PKU cases.
- Examination of outcomes from a collaborative maternal PKU study.
Main Results:
- Classical untreated maternal PKU results in 92% intellectual disability, 73% microcephaly, and 40% growth retardation in offspring.
- Low phenylalanine diets during pregnancy drastically reduce fetal defect incidence.
- Early dietary treatment, especially preconceptionally, shows promising results.
Conclusions:
- Strict dietary management of maternal PKU is crucial for preventing fetal complications.
- Prenatal and premarital screening for maternal PKU is recommended for future generations.
- Close monitoring of maternal and fetal nutrition is essential during dietary therapy.
Abstract:
This review points out the very high incidence of damage to the fetus in untreated maternal phenylketonuria (PKU). In classical cases, 92% of the offspring are mentally retarded, 73% have microcephaly, 40% are growth retarded at birth, and 12% have congenital anomalies. Less severe types of PKU and its variants and patients treated with a low phenylalanine diet during pregnancy have a much lower incidence of these defects in their offspring. Very promising results have been obtained in a small number of preconception and early first trimester treated patients under very strict dietary control. Nutrition of the mother and fetus is a major concern during the application of this restrictive diet and must be monitored closely to avoid fetal damage from malnutrition. A 7-year collaborative study of maternal PKU began in November 1984 in the US and Canada, but even in this well publicized study, many patients are presenting late for treatment. It is suggested that premarital and/or prenatal screening for maternal PKU should be initiated for the next generation.