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Phenylketonuria

Also called: PKU

- Summary
- About phenylketonuria
- Potential causes
- Signs and symptoms
- Diagnosis methods
- Treatment options
- Prevention methods
- Ongoing research
- Questions for your doctor

Reviewed By:
Rafiu Ariganjoye, M.D., MBA, FAAP

Questions for your doctor on phenylketonuria

Preparing questions in advance can help patients and parents to have more meaningful discussions with their physicians regarding their or their child’s treatment options. The following questions related to phenylketonuria (PKU) may be helpful:

  1. Should my partner and I undergo genetic testing before having children?

  2. If we test positive, should we refrain from having children?

  3. I am a carrier of PKU. How can I reduce the risk of passing PKU onto my child?

  4. Do you suggest having chorionic villus sampling performed on my fetus?

  5. When will my child be tested for PKU?

  6. If my child tests positive, what are our treatment options?

  7. Where can I find a formula that is low in phenylalanine?

  8. Will I need to work with a dietician to plan a safe diet for my child?

  9. What other resources can help me plan safe meals?

  10. What are the odds that our future children will have PKU?

  11. What should I tell my child’s school about diet restrictions?

  12. What happens if my child eats a lot of protein by mistake?

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Review Date: 01-23-2008
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