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You are here : Healthopedia.com > Medical Encyclopedia > Diseases and Conditions > Phenylketonuria: Treatment & Monitoring

Phenylketonuria

Alternate Names : PKU, Phenylalanine Hydroxylase Deficiency

Phenylketonuria | Symptoms & Signs | Diagnosis & Tests | Prevention & Expectations | Treatment & Monitoring | Attribution


What are the treatments for the disease?

Treatment consists of limiting phenylalanine in the diet. Some healthcare providers are willing to relax the diet after several years of life. Others suggest limiting phenylalanine throughout life. The diet is difficult to follow because phenylalanine is present in many foods. Foods that replace phenylalanine with another substance often do not taste very good.

What are the side effects of the treatments?

There are no side effects to limiting phenylalanine in the diet. A person may find it challenging to avoid such foods, however.

What happens after treatment for the disease?

Pregnant women with phenylketonuria need to avoid phenylalanine. Women with PKU who do not limit phenylalanine intake during pregnancy are at high risk of having a baby with defects, including the following:

  • congenital heart disease
  • low birth weight
  • mental retardation
  • small head size
  • How is the disease monitored?

    Regular blood and urine tests will be done to monitor PKU. Any new or worsening symptoms should be reported to the healthcare provider.


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    Phenylketonuria: Prevention & Expectations

     

    Phenylketonuria: Attribution

    Author: Ronald J. Jorgenson, DDS, PhD, FACMG
    Reviewer: Barbara Mallari, RN, BSN, PHN
    Date Reviewed: 08/07/01









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    Page Last Updated: 30th May, 2006