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Definition
By Mayo Clinic staffPhenylketonuria (fen-ul-ke-toe-NU-re-uh) is a birth defect in which a mutation occurs in a gene containing instructions for making the enzyme needed to break down the amino acid phenylalanine.
Amino acids are the building blocks for protein, but too much phenylalanine can cause a variety of health problems. People with phenylketonuria (PKU) — babies, children and adults — need to follow a diet that limits phenylalanine, which is found mostly in high-protein foods.
Babies in the United States and many other countries are screened for phenylketonuria soon after birth. Although phenylketonuria is rare, recognizing phenylketonuria right away can help prevent serious health problems.
- Bodamer OA. Overview of phenylketonuria. http://www.uptodate.com/home/index.html. Accessed Aug. 18, 2009.
- Phenylketonuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed Aug. 27, 2009.
- PKU (Phenylketonuria). March of Dimes. http://www.marchofdimes.com/professionals/14332_1219.asp. Accessed Aug. 24, 2009.
- 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.
- 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.
