Phenylketonuria (PKU)

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Prevention

By 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.
References
  1. Bodamer OA. Overview of phenylketonuria. http://www.uptodate.com/home/index.html. Accessed Aug. 18, 2009.
  2. Phenylketonuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed Aug. 27, 2009.
  3. PKU (Phenylketonuria). March of Dimes. http://www.marchofdimes.com/professionals/14332_1219.asp. Accessed Aug. 24, 2009.
  4. Longo Nicola. Inherited disorders of amino acid metabolism in adults. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: McGraw Hill Medical; 2008. http://www.accessmedicine.com/content.aspx?aID=2882866. Accessed Aug. 27, 2009.
  5. Amino acid and organic acid metabolism disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296c.html. Accessed Aug. 27, 2009.

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Oct. 20, 2009

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