PKU Genetics

Since I have PKU will my child also develop PKU?

In most cases of maternal PKU, the baby will not inherit the metabolic disorder. Only if the father is also a carrier of the PKU gene, the child will also develop PKU.
Specifically, every person has 2 genes that can cause PKU, one gene inherited from the father and one form the mother. Each of the 2 genes may carry PKU or be normal. The following may occur:

• If both parents pass along to their child a normal gene, then the child will not have PKU.
• If one parent passes along a PKU gene, but the other parent passes along a normal gene, then the child will not have PKU.
• The only way that the child will develop PKU, is if both parents have the PKU gene and pass it to the child.

You and your partner can get genetic counseling to find out if you have any risk of passing PKU on to your children.

Our complete Maternal PKU & Pregnancy Guide is now online! If you are a woman with phenylketonuria (PKU), and are planning to get pregnant, or already are pregnant, we created this guide for you! Developed by metabolic and nutrition specialists at Children’s Hospital Boston, the guide includes sections on PKU, Maternal PKU, genetics, newborn health, PKU recipes, and PKU & pregnancy resources. Being pregnant with PKU is challenging, but with careful planning ahead of time, and with the right diet, health care, and information, you can experience the wonder and joy of carrying and delivering a healthy baby.

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