If your newborn is diagnosed with phenylketonuria (PKU), it’s important for you and your partner to receive genetic counseling.

What is genetic counseling?

Genetic counseling helps you to understand how a genetic disease can affect you or your family. The counselor will take a family medical history, and determine if you or another family member should get a genetic test.

The counselor can also help you interpret the results of a genetic test. And they can help you calculate the risk of future children inheriting a genetic disease from you or your partner.

Counseling for PKU

The genetic counselor can discuss the results of your baby’s genetic test. They can also discuss the treatment plan that you and your physician have developed for your child.

If your baby has PKU, it is likely that you and your partner are carriers of mutations in the PAH gene that cause this disease. PKU carriers generally show no disease symptoms. In some instances, PKU occurs through random mutations, but most known cases are inherited by a child from the parents.

PKU has an autosomal recessive inheritance pattern. This means that a child must inherit two copies of a disease-causing mutation, one from each parent, to develop the disease.

If you are planning to have more children, your genetic counselor can help you calculate their risk of also inheriting PKU. If both you and your partner are carriers, your children will have a 1 in 4 chance of developing PKU, and a 1 in 2 chance of being  a carrier.

They also have a 1 in 4 chance of inheriting two healthy copies of the PAH gene.

Last updated: May 21, 2020

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Phenylketonuria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.