National Institutes of Health
- The primary NIH organization for research on Phenylketonuria is the National Institute of Child Health and Human Development
A service of the U.S. National Library of Medicine 
National Institutes of Health
Phenylketonuria
Also called: PKU
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 mental retardation. 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
-
Start Here
-
Phenylketonuria (PKU)(National Institute of Child Health and Human Development)
- PKU (Phenylketonuria)(March of Dimes Birth Defects Foundation)
- Also available in Spanish
-
Phenylketonuria (PKU)
The top row in the table of contents box contains the following groups:
Basics
,
Learn More
, and
Multimedia & Cool Tools
.
For group Basics
For group Learn More
For group Multimedia & Cool Tools
The bottom row in the table of contents box contains the following groups:
Research
,
Reference Shelf
, and
For You
.
For group Research
For group Reference Shelf
For group For You
-
Overviews
- Phenylketonuria(Mayo Foundation for Medical Education and Research)
-
Nutrition
- Are Artificial Sweeteners OK to Consume during Pregnancy?(Nemours Foundation)
- At the Table with Family(National PKU News)
- 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)
-
Disease Management
- How Is PKU Monitored?(University of Washington PKU Clinic)
-
Related Issues
- Babysitter's Guide to PKU(University of Washington PKU Clinic) - PDF
- Introduction to Drug Products Containing Phenylalanine(National PKU News)
- Questions and Answers about PKU(National PKU News)
- Sugar Substitutes: Aspartame(American Academy of Family Physicians)
- Also available in Spanish
- Return to top
-
Tutorials
- What Is Phenylketonuria (PKU)?(Dolan DNA Learning Center)
- Return to top
-
Clinical Trials
-
ClinicalTrials.gov: Phenylketonurias(National Institutes of Health)
- Return to top
-
ClinicalTrials.gov: Phenylketonurias
-
Genetics
-
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)
- Return to top
-
Genetics Home Reference: Phenylketonuria
-
Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide...
- Article: Breast-feeding success among infants with phenylketonuria.
- Article: Depressive symptoms in adolescents with early and continuously treated phenylketonuria:...
- Phenylketonuria -- see more articles
- Return to top
-
Directories
- Genetics Clinic Directory Search(University of Washington)
- Return to top
-
Organizations
-
Law and Policy
- State Laws and Policies: PKU(National PKU News)
- Return to top
-
Women
- Maternal PKU and Pregnancy(Organization of Teratology Information Specialists) - PDF
- Also available in Spanish
- Return to top
-
Adults
- Essentials of PKU for Young Adults with PKU and Their Significant Others(University of Washington PKU Clinic)
- Return to top
-
Patient Handouts
- Phenylketonuria
- Also available in Spanish
- Return to top
-
You may also be interested in these related encyclopedia pages:
MEDICAL ENCYCLOPEDIA
Phenylketonuria - Multiple Languages
