Complications
Untreated PKU can lead to complications in infants, children, and adults with the disorder. When mothers with PKU have high blood phenylalanine levels during pregnancy, fetal birth defects or miscarriage can occur.
Untreated PKU can lead to:
- Irreversible brain damage and marked intellectual disability beginning within the first few months of life
- Neurological problems such as seizures and tremors
- Behavioral, emotional, and social problems in older children and adults
- Major health and developmental problems
Prevention
If you have PKU and are considering getting pregnant:
- Follow a low-phenylalanine diet: Women with Pku can prevent birth defects by sticking to or returning to a low-phenylalanine diet before becoming pregnant. If you have PKU, talk to your doctor before you start trying to conceive.
- Consider genetic counseling: If you have PKU, a close relative with PKU, or a child with PKU, you may also benefit from genetic counseling before becoming pregnant. A doctor who specializes in medical genetics (geneticist) can help you better understand how PKU is passed through your family tree. He or she can also help determine your risk of having a child with PKU and assist with family planning.
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