Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It 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
- What Are Common Symptoms of Phenylketonuria (PKU)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
Diagnosis and Tests
- How Do Health Care Providers Diagnose Phenylketonuria (PKU)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
- Phenylketonuria (PKU) Screening (National Library of Medicine) Also in Spanish
Treatments and Therapies
- What Are Common Treatments for Phenylketonuria (PKU)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
- At the Table with Family and Making Family Meals Manageable (National PKU News)
- Learning about Phenylketonuria (PKU) (National Human Genome Research Institute)
- Phenylketonuria: MedlinePlus Genetics (National Library of Medicine)
- Tetrahydrobiopterin deficiency: MedlinePlus Genetics (National Library of Medicine)
Videos and Tutorials
- What Is Phenylketonuria (PKU)? (DNA Learning Center)
- ClinicalTrials.gov: Phenylketonurias (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with...
- Article: Efficacy of a New Low-Protein Multimedia Diet App for PKU.
- Article: The management of transitional care of patients affected by phenylketonuria in...
- Phenylketonuria -- see more articles