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Phenylketonuria

Also called: PKU

Summary

Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.

The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food.

Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life.

NIH: National Institute of Child Health and Human Development

Start Here

  • (Mayo Foundation for Medical Education and Research)
  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in
  • (March of Dimes Birth Defects Foundation) Also in

Symptoms

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Diagnosis and Tests

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Treatments and Therapies

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Living With

  • (Nemours Foundation)
  • (National PKU News)
  • (University of Washington PKU Clinic)
  • (University of Washington PKU Clinic)
  • (University of Washington PKU Clinic)

Related Issues

  • (American Academy of Family Physicians) Also in

Genetics

  • From the National Institutes of Health (National Library of Medicine)
  • From the National Institutes of Health (National Library of Medicine)
  • From the National Institutes of Health (National Human Genome Research Institute)

Videos and Tutorials

  • (Dolan DNA Learning Center)

Clinical Trials

  • From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Find an Expert

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in
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Adults

  • (University of Washington PKU Clinic)

Patient Handouts

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