Skip to content
My WebMD Sign In, Sign Up

Health & Pregnancy

Font Size

Recommendations for Maternal Phenylketonuria (PKU)

The American Academy of Pediatrics (AAP) recommends the following to manage maternal phenylketonuria (PKU):1

  • All women and girls of childbearing age with elevated phenylalanine (Phe) levels should be identified and counseled about the effects that high Phe may have on a fetus.
  • Pregnant women with high Phe levels should be offered tests to detect fetal problems.
  • A woman should have a blood test for PKU if her child has features that suggest the mother had high Phe levels during pregnancy. For example, her baby may be born with a very small head (microcephaly) and heart problems.

A woman who has PKU and is considering pregnancy or is pregnant should:

  • Achieve low levels (below 6 mg/dL) of Phe at least 3 months before conception.2
  • Get tested at least once a week.
  • Receive adequate nutrition.
  • Be offered genetic counseling before and during pregnancy.

Citations

  1. Committee on Genetics, American Academy of Pediatrics (2008). Maternal phenylketonuria. Pediatrics, 122(2): 445–449.

  2. Kaye CI, and the Committee on Genetics, American Academy of Pediatrics (2006, reaffirmed 2011). Phenylketonuria section of Newborn screening fact sheets: Technical report. Pediatrics, 118(3): e956–e957.

ByHealthwise Staff
Primary Medical ReviewerJohn Pope, MD - Pediatrics
Specialist Medical ReviewerChuck Norlin, MD, MD - Pediatrics
Last RevisedSeptember 8, 2011

WebMD Medical Reference from Healthwise

Last Updated: September 08, 2011
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

Pregnancy Week-By-Week Newsletter

Delivered right to your inbox, get pictures and facts on
what to expect each week of your pregnancy.

Today on WebMD

Woman smiling as she reads pregnancy test
Slideshow
pregnant woman with salad
Quiz
 
pregnancy am i pregnant
Article
babyapp
NEW
 

slideshow fetal development
Slideshow
pregnancy first trimester warning signs
Article
 
What Causes Bipolar
Video
Woman trying on dress in store
Slideshow
 

pregnant woman
Article
Close up on eyes of baby breastfeeding
Video
 
healthtool pregnancy calendar
Tool
eddleman prepare your body pregnancy
Video