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Published on: June 13, 2021
Psychosocial issues and outcomes in maternal PKU
Richard Koch1, Friedrich Trefz, Susan Waisbren
1University of Southern California/Keck School of Medicine, Department of Pediatrics, Genetics Division, 2125 Ames St., Los Angeles, CA 90027, USA. drpku@sbcglobal.net
Molecular Genetics and Metabolism
|February 4, 2010
Summary
Maternal phenylketonuria (MPKU) requires strict phenylalanine control during pregnancy to prevent fetal damage. Early metabolic control before and during pregnancy, alongside comprehensive support, significantly improves outcomes for mothers and infants.
Area of Science:
- Biochemistry
- Genetics
- Maternal-Fetal Medicine
Background:
- Elevated maternal phenylalanine (Phe) in phenylketonuria (PKU) is teratogenic, causing fetal damage known as maternal PKU (MPKU).
- MPKU can lead to birth defects like developmental delays, microcephaly, heart defects, and low birth weight.
Purpose of the Study:
- To review the importance of metabolic control in MPKU during pregnancy.
- To highlight challenges in adherence and propose a comprehensive management approach.
Main Methods:
- Literature review on maternal phenylketonuria management.
- Analysis of factors affecting dietary adherence and treatment outcomes.
Main Results:
- Metabolic control (Phe 120-360 micromol/L) before and by 8 weeks of pregnancy dramatically reduces birth defect risks.
- Poor adherence due to access, cost, and psychosocial issues impacts outcomes.
- Postpartum treatment cessation negatively affects maternal well-being and the home environment.
Conclusions:
- A comprehensive, lifelong management strategy is crucial for MPKU.
- Early education, pregnancy prevention, psychosocial support, and improved access to care and medical foods are vital.
- Emerging treatments like sapropterin may aid metabolic control.
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