Recommendations for maternal phenylketonuria
The American Academy of Pediatrics (AAP) recommends the following for preventing and managing 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.
- Women with elevated Phe levels who are unable or unwilling to maintain recommended levels of Phe should be assisted in finding adequate means of birth control.
- Pregnant women with Phe levels greater than 4 mg/dL to 6 mg/dL should receive counseling concerning the risks to the fetus and should be offered ultrasound tests to detect fetal problems.
- Pregnant women with Phe levels greater than 14.9 mg/dL may consider terminating the pregnancy.
- A woman should have a blood test for PKU if her child has features that suggest the mother had high phenylalanine (Phe) levels during pregnancy. For example, her baby may be born with a very small head (microcephaly) and heart problems. The AAP recommends that the mother is tested for PKU when there is no other known cause for the baby's symptoms.
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.
| Author: | Debby Golonka, MPH | Last Updated: February 27, 2008 |
| Medical Review: | Michael J. Sexton, MD - Pediatrics Thomas Emmett Francoeur, MDCM, CSPQ, FRCPC - Pediatrics | |
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