Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the 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 they 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 that they stay on the diet for the rest of their lives.
NIH: National Institute of Child Health and Human Development
- How Do Health Care Providers Diagnose Phenylketonuria (PKU)? (National Institute of Child Health and Human Development)
- What Are Common Symptoms of Phenylketonuria (PKU)? (National Institute of Child Health and Human Development)
- 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)
- Look-Alike Foods: A Solution or a Pandora's Box? (University of Washington PKU Clinic) - PDF
- What Is the Diet for PKU? (University of Washington PKU Clinic)
- What Is Phenylketonuria (PKU)? (Dolan DNA Learning Center)
- ClinicalTrials.gov: Phenylketonurias (National Institutes of Health)
- 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)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis.
- Article: Sapropterin is safe and effective in patients less than 4-years-old...
- Article: Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.
- Phenylketonuria -- see more articles
Law and Policy
- State Laws and Policies: PKU (National PKU News)
- Essentials of PKU for Young Adults with PKU and Their Significant Others (University of Washington PKU Clinic)