MedlinePlus: Phenylketonuria

MedlinePlus Trusted Health Information for You

Other Health Topics:

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
XYZ
List of All Topics

Photograph of a baby's hand holding an adult's hand

Related Topics
Go Local
- Services and providers for Phenylketonuria in the U.S.
- Select from map
National Institutes of Health
- The primary NIH organization for research on Phenylketonuria is the National Institute of Child Health and Human Development

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.

National Institute of Child Health and Human Development

Start Here

Genetics Home Reference: Phenylketonuria(National Library of Medicine)
Phenylketonuria (PKU)(National Institute of Child Health and Human Development)
PKU(March of Dimes Birth Defects Foundation)
Also available in Spanish

Basics	Learn More	Multimedia & Cool Tools
Overviews	Nutrition Disease Management Related Issues	Tutorials
Research	Reference Shelf	For You
Clinical Trials Genetics Journal Articles	Directories Organizations Law and Policy	Adults

Overviews
- Phenylketonuria(Mayo Foundation for Medical Education and Research)
Nutrition
- Is Aspartame Safe for My Child?(Nemours Foundation)
- Look-Alike Foods: A Solution or a Pandora's Box?(University of Washington PKU Clinic) - Links to PDF
- What Is the Diet for PKU?(University of Washington PKU Clinic)
Disease Management
- How Is PKU Monitored?(University of Washington PKU Clinic)
- NIH Consensus Panel Recommends Comprehensive Approach to Life Long Care for PKU(National Institute of Child Health and Human Development)
Related Issues
- Babysitter's Guide to PKU(University of Washington PKU Clinic) - Links to PDF
- Introduction to Drug Products Containing Phenylalanine(National PKU News)
- Questions and Answers about PKU(National PKU News)
Return to top
Tutorials
- What Is Phenylketonuria (PKU)?(Dolan DNA Learning Center) - Requires Flash Player
Return to top
Clinical Trials
- ClinicalTrials.gov: Phenylketonurias(National Institutes of Health)
Return to top
Genetics
- Genetics Home Reference: Phenylketonuria(National Library of Medicine)
- Genetics Home Reference: Tetrahydrobiopterin deficiency(National Library of Medicine)
Return to top
Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
Return to top
Directories
- US Clinic Directory Search(University of Washington)
Return to top
Organizations
- March of Dimes Birth Defects Foundation
  Also available in Spanish
- National Institute of Child Health and Human Development
- National PKU News
Return to top
Law and Policy
- Disorders Screened in State NBS Programs(Save Babies Through Screening Foundation)
- State Laws and Policies: PKU(National PKU News)
Return to top
Adults
- Essentials of PKU for Young Adults with PKU and Their Significant Others(University of Washington PKU Clinic)
Return to top

Other Health Topics:

Related Topics

Go Local

National Institutes of Health