PreventionBy Mayo Clinic staff
- Follow a low-phenylalanine diet. Women with PKU can prevent birth defects by sticking to — or returning to — a low-phenylalanine diet before becoming pregnant. Even women with mild PKU may place their unborn children at risk by not following the special PKU diet. If you're a woman with a history of PKU, talk to your doctor before you start trying to conceive.
- Consider genetic counseling. If you have a history of PKU, a close relative with PKU or a child with PKU, you may also benefit from preconception genetic counseling. A doctor who specializes in medical genetics can help you better understand how PKU is passed through your family tree. He or she can also help you determine your risk of having a child with PKU and assist with family planning.
- Phenylketonuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed Oct. 6, 2011.
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- Bodamer OA. Overview of phenylketonuria. http://www.uptodate.com/home/index.html. Accessed Oct. 6, 2011.
- PKU (Phenylketonuria). March of Dimes. http://www.marchofdimes.com/baby/birthdefects_pku.html. Accessed Oct. 6, 2011.
- Ten Hoedt AE, et al. Parenting a child with phenylketonuria or galactosemia: Implications for health-related quality of life. Journal of Inherited Metabolic Diseases. 2011;34:391.
- Van Spronsen FJ, et al. Large neutral amino acids in the treatment of PKU: From theory to practice. Journal of Inherited Metabolic Diseases. 2010;33:671.