January is Birth Defects Awareness Month

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.


Your clinic is not there to judge you but rather to get you and your baby on track to a healthy birth. 

  1. 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
  2. Guide to a PKU Pregnancy from the New England Consortium of Metabolic Programs
  3. March of Dimes information on Maternal PKU