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Women with PKU

If a woman with PKU becomes pregnant, and she is not on a well-controlled diet, there is a very high chance that her baby will have serious problems, like mental retardation and birth defects. This is because people with PKU who do not follow a low-phenylalanine diet have extra phenylalanine stored up in their bodies. This phenylalanine is passed to the baby while a mother is pregnant, and can be very harmful for the developing baby.

Birth defects due to uncontrolled diet in the mom are separate from the inherited PKU condition. Most moms with PKU will not have kids with PKU.  Brain and other damage that happens before birth to babies born to PKU moms with high phenylalanine levels cannot be fixed or helped by a special diet. These problems are permanent.

Because some women experience nausea and vomiting with their pregnancies, this can further complicate staying on the low protein plus formula diet for women with PKU.

We know today that with careful attention, women with PKU can have pregnancies that are successful for both the mother and the baby.