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
At the Table with Family(National PKU News)
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)
Questions and Answers on Sapropterin (Kuvan)(Center for Drug Evaluation and Research)
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Tutorials
What Is Phenylketonuria (PKU)?(Dolan DNA Learning Center)
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Clinical Trials
ClinicalTrials.gov: Phenylketonurias(National Institutes of Health)
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Genetics
Genetics Home Reference: Phenylketonuria(National Library of Medicine)
Genetics Home Reference: Tetrahydrobiopterin deficiency(National Library of Medicine)
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Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Article: Carrier detection of phenylketonuria in Iranian families by variable number...
Article: Adult issues in phenylketonuria.
Article: Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia...
Phenylketonuria -- see more articles
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Directories
US Clinic Directory Search(University of Washington)
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Organizations
March of Dimes Birth Defects Foundation
Also available in Spanish
National Institute of Child Health and Human Development
National PKU News
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Law and Policy
Disorders Screened in State NBS Programs(Save Babies Through Screening Foundation)
State Laws and Policies: PKU(National PKU News)
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Adults
Essentials of PKU for Young Adults with PKU and Their Significant Others(University of Washington PKU Clinic)
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