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[Maternal phenylketonuria]
János Bókay1, Erika Kiss, Erika Simon
1Semmelweis Egyetem, Általános Orvostudományi Kar I. Gyermekgyógyászati Klinika, Budapest. bokay@med.semmelweis-univ.hu
Preventing maternal phenylketonuria (PKU) requires maintaining optimal phenylalanine levels before and during pregnancy. Early counselling and continuous metabolic control are crucial for preventing embryo-foetopathy and adverse fetal effects.
Area of Science:
- Biochemistry
- Genetics
- Maternal-Fetal Medicine
Context:
- Elevated maternal phenylalanine levels during pregnancy cause teratogenicity, leading to embryo-foetopathy.
- Maternal phenylketonuria (PKU) can result in stillbirth, psychomotor handicaps, and birth defects.
- Hyperphenylalaninaemia, a milder variant of PKU, also poses risks to fetal development.
Purpose:
- To review the comprehensive prevention program for maternal PKU at the Metabolic Center of Budapest.
- To survey the practical approach to continuous maternal metabolic control.
- To delineate the outcomes of pregnancies in mothers with PKU.
Summary:
- Maintaining maternal phenylalanine levels within the optimal range before and throughout pregnancy is the most effective method to prevent maternal PKU.
- Women of childbearing age with PKU or hyperphenylalaninaemia require counseling on fetal risks before pregnancy.
- The study reviews a long-term program for maternal PKU prevention and management.
Impact:
- Highlights the importance of preconception counseling and continuous metabolic monitoring for women with PKU.
- Demonstrates the success of a comprehensive prevention program in improving pregnancy outcomes.
- Provides insights into managing metabolic disorders during pregnancy to prevent adverse fetal effects.
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