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Phenylketonuria (PKU) is a disease that is caused by a lack of the liver enzyme that is needed to digest phenylalanine. Phenylalanine is an amino acid. It is most commonly found in foods that contain protein, such as meat, cow's milk, over-the-counter infant formula, and breast milk.
PKU develops when the gene for making the enzyme needed to digest phenylalanine is changed (mutated). To have the disease, a child must inherit a mutated gene from each parent.
A child is more likely to develop this condition if both parents have the mutated gene that causes PKU. This condition is most common in those of European and Native American descent.
PKU is diagnosed with a blood test. If the test is positive, additional blood, urine, or genetic tests may be run to verify the results. All newborns should have this test within 1 to 2 days of birth.
National Organization for Rare Disorders: rarediseases.org
This information is not intended to replace advice given to you by your health care provider. Make sure you discuss any questions you have with your health care provider.
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