metabolic doctor. A special diet is often used to treat this condition. Babies must drink a formula made without phenylalanine. Children and adults will work with a dietitian to learn about the best foods to eat. ‚
Are there other health problems to treat?
Your doctor will treat any of the problems you are having because of this disease. The doctor may also send you to a therapist for more help if you have slowed development. ‚
What lifestyle changes are needed?
You will have to follow your special diet for the rest of your life. This will help to keep your condition from getting worse. ‚
What drugs may be needed?
Your doctor may order diet supplements. You may need to take things like fish oil, iron, or carnitine. Experimental treatments include a drug with BH4, a drug with the missing enzyme, or gene therapy. ‚
What problems could happen?
- Long-lasting brain damage
- Behavior problems and hyperactivity
- Low IQ
- Anxiety or low mood
- Delay in development
- Seizures, jerking movements, or tremors
- Skin rash
- Stunted growth
- Small head size
- Low bone density
- Vitamin deficiency
- Hands stay in an odd position
What can be done to prevent this health problem?
- Women with PKU who are pregnant need to follow a strict low phenylalanine diet. Even if the baby does not have the gene defect, high phenylalanine levels in the mother can damage the baby.
- An enzyme test for parents can show if the parents carry the defective gene. Parents can also talk with the doctor about their risk of having another baby with PKU.
- A test done during pregnancy, called chorionic villus sampling, can show if a baby has PKU before birth.
Where can I learn more?
March of Dimes ‚
http://www.marchofdimes.com/baby/birthdefects_pku.html ‚
National Organization for Rare Disorders ‚
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/65/viewAbstract ‚
NHS Choices ‚
http://www.nhs.uk/conditions/phenylketonuria/pages/introduction.aspx ‚
Last Reviewed Date
2013-05-14 ‚
List_set bdysylist
- Endocrine and Metabolic
- Neonatal
- Pediatric
Consumer Information Use and Disclaimer
This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care provider 's advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you. ‚
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Copyright ‚ © 2016 Wolters Kluwer Clinical Drug Information, Inc. and its affiliates and/or licensors. All rights reserved. ‚