Recommendations for Maternal Phenylketonuria (PKU)
American Academy of Pediatrics (AAP) recommends the following to manage maternal
- 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
- Pregnant women with high Phe
levels should be offered
tests to detect fetal
- 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
- Achieve low levels (below 6 mg/dL) of Phe at
least 3 months before conception.2
tested at least once a week.
- Receive adequate nutrition.
- Be offered genetic counseling before and during pregnancy.
Committee on Genetics, American Academy of Pediatrics (2008). Maternal phenylketonuria. Pediatrics, 122(2): 445–449.
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):
|Primary Medical Reviewer||John Pope, MD - Pediatrics|
|Specialist Medical Reviewer||Chuck Norlin, MD, MD - Pediatrics|
|Last Revised||September 8, 2011|