Phenylketonuria

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Basics

• Summary
• Start Here
• Symptoms
• Diagnosis and Tests
• Treatments and Therapies

Learn More

• Living With
• Related Issues
• Genetics

See, Play and Learn

• Videos and Tutorials

Research

• Clinical Trials
• Journal Articles

Resources

• Find an Expert

For You

• Adults
• Patient Handouts

Summary

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

Start Here

• Phenylketonuria (Mayo Foundation for Medical Education and Research) Also in Spanish
• Phenylketonuria (PKU) (National Institute of Child Health and Human Development) Also in Spanish
• PKU (Phenylketonuria) in Your Baby (March of Dimes Birth Defects Foundation) Also in Spanish

Symptoms

• What Are Common Symptoms of Phenylketonuria (PKU)? (National Institute of Child Health and Human Development) Also in Spanish

Diagnosis and Tests

• How Do Health Care Providers Diagnose Phenylketonuria (PKU)? (National Institute of Child Health and Human Development) Also in Spanish

Treatments and Therapies

• What Are Common Treatments for Phenylketonuria (PKU)? (National Institute of Child Health and Human Development) Also in Spanish

Living With

• 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)

Related Issues

• Sugar Substitutes (American Academy of Family Physicians) Also in Spanish

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)

Videos and Tutorials

• What Is Phenylketonuria (PKU)? (Dolan DNA Learning Center)

Clinical Trials

• ClinicalTrials.gov: Phenylketonurias (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation...
• Article: Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism...
• Article: Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with...
• Phenylketonuria -- see more articles

Find an Expert

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (National Institute of Child Health and Human Development) Also in Spanish
• March of Dimes Birth Defects Foundation Also in Spanish

Adults

• Essentials of PKU for Young Adults with PKU and Their Significant Others (University of Washington PKU Clinic)

Patient Handouts

• Phenylketonuria (Medical Encyclopedia) Also in Spanish
• Serum phenylalanine screening (Medical Encyclopedia) Also in Spanish