January is Birth Defects Awareness Month. PKU is not a birth defect but it does have some commonalities with birth defects. One connection with PKU is Maternal PKU Syndrome (mPKU). This is a complex condition which can occur in any pregnancy of a woman with PKU.
mPKU occurs when a woman has blood phe levels are high (> 6 mg/dL or >360 mmol/dL) especially during the first trimester. The high blood-phe is transmitted to the baby in toxic levels and can cause severe developmental delay, small head (microcephaly), and heart defects. The defects of the heart can be life-threatening. These problems can be avoided and women with PKU can have healthy pregnancies and healthy babies!
What to do:
- Stay on diet (for life), or get back on diet immediately if you think you are pregnant
- Notify your dietitian and PKU team immediately once you think or confirm you are pregnant
- Your dietitian can enroll you in NPKUA’s Emergency Maternal PKU Assistance Program, which includes access to low-protein foods, support, a free Maternal PKU guide from PKU News, and a free year’s subscription to HowMuchPhe.org to help you manage your pregnancy
- Contact the NPKUA to be matched with a Maternal PKU Mentor. Someone who has been in your situation and can help guide you through a healthy pregnancy with PKU. More details here.
- Getting Anxious. Many women have been in your situtation before and have had healthy pregnancies. Just call your clinic. If you don’t know your closest clinic, look here: https://npkua.org/Resources/Find-a-Clinic. Or contact us at firstname.lastname@example.org.
Your clinic is not there to judge you but rather to get you and your baby on track to a healthy birth.
- HowMuch Phe, The Maternal PKU Edition: This pocket guide to pregnancy, written by a dietitian who is also a mom with PKU, provides food lists, sample meal plans, and strategies for managing the challenges of a PKU pregnancy
- Guide to a PKU Pregnancy from the New England Consortium of Metabolic Programs
- March of Dimes information on Maternal PKU