What Is Phenylketonuria?
6. What Are the Effects During Pregnancy?
When a woman with PKU is pregnant, the potential for maternal PKU exists. This condition results in exceptionally high levels of phenylalanine in the blood, even in those who have milder forms of the disorder. When the PKU diet is not followed prior to and during pregnancy, the chances for miscarriage and birth defects are increased.
Those children who are born to mothers who have elevated phenylalanine do not frequently inherit PKU. However, there is an increased risk of birth defects. Microcephaly (an abnormally small head), low birth weight, facial malformity, developmental delays, heart defects, intellectual disabilities and behavioral issues are all possible outcomes for the baby.
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