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
- What Are Common Symptoms of Phenylketonuria (PKU)? (National Institute of Child Health and Human Development)
Diagnosis and Tests
- How Do Health Care Providers Diagnose Phenylketonuria (PKU)? (National Institute of Child Health and Human Development)
Treatments and Therapies
- What Are Common Treatments for Phenylketonuria (PKU)? (National Institute of Child Health and Human Development)
- Are Artificial Sweeteners OK to Consume during Pregnancy? (Nemours Foundation)
- At the Table with Family and Making Family Meals Manageable (National PKU News)
- How Is PKU Monitored? (University of Washington PKU Clinic)
- PKU Self-Management Timeline (University of Washington PKU Clinic)
- What Is the Diet for PKU? (University of Washington PKU Clinic)
- Genetics Home Reference: phenylketonuria (National Library of Medicine)
- Genetics Home Reference: tetrahydrobiopterin deficiency (National Library of Medicine)
- Learning about Phenylketonuria (PKU) (National Human Genome Research Institute)
Videos and Tutorials
- What Is Phenylketonuria (PKU)? (Dolan DNA Learning Center)
- ClinicalTrials.gov: Phenylketonurias (National Institutes of Health)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Phenylketonuria is not a risk factor for changes of inflammation...
- Article: In vitro residual activity of phenylalanine hydroxylase variants and correlation...
- Article: Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.
- Phenylketonuria -- see more articles
Find an Expert
- Essentials of PKU for Young Adults with PKU and Their Significant Others (University of Washington PKU Clinic)