If you're a woman with phenylketonuria who's considering having a baby:
Oct. 17, 2017
- 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. If you're a woman with 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. 12, 2014.
- Greene CL, et al. National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI). Molecular Genetics and Metabolism. 2014;112:85.
- Camp KM, et al. Phenylketonuria Scientific Review Conference: State of the science and future research needs. Molecular Genetics and Metabolism. 2014;112:87.
- Ney DM, et al. Advances in the nutritional and pharmacological management of phenylketonuria. Current Opinion in Clinical Nutrition and Metabolic Care. 2014;17:61.
- Marcason W. Is there a standard meal plan for phenylketonuria (PKU)? Journal of the Academy of Nutrition and Dietetics. 2014;113:S1.
- Casey L. Caring for children with phenylketonuria. Canadian Family Physician. 2013;59:837.
- About phenylketonuria (PKU). National Human Genome Research Institute. http://www.genome.gov/25020037. Accessed Oct. 12, 2014.
- My PKU binder. National PKU Alliance. http://npkua.org/Education/MyPKUBinder.aspx. Accessed Oct. 21, 2014.
- Zeratsky KA (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 5, 2014.
- Gavrilov DK (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 10, 2014.