Phenylketonuria

Summary

Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can’t process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It 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

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Living With

• At the Table with Family and Making Family Meals Manageable National PKU News

Clinical Trials

• ClinicalTrials.gov: Phenylketonurias National Institutes of Health

Find an Expert

• Eunice Kennedy Shriver National Institute of Child Health and Human Development Eunice Kennedy Shriver National Institute of Child Health and Human Development
• March of Dimes Foundation March of Dimes Foundation

Diagnosis and Tests

• How Do Health Care Providers Diagnose Phenylketonuria (PKU)? Eunice Kennedy Shriver National Institute of Child Health and Human Development
• Phenylketonuria (PKU) Screening National Library of Medicine

Genetics

• Learning about Phenylketonuria (PKU) National Human Genome Research Institute
• Phenylketonuria: MedlinePlus Genetics National Library of Medicine
• Tetrahydrobiopterin deficiency: MedlinePlus Genetics National Library of Medicine

Start Here

• Phenylketonuria Mayo Foundation for Medical Education and Research
• Phenylketonuria (PKU) Eunice Kennedy Shriver National Institute of Child Health and Human Development
• PKU (Phenylketonuria) in Your Baby March of Dimes Foundation

Patient Handouts

• Phenylketonuria Medical Encyclopedia
• Serum phenylalanine screening Medical Encyclopedia

Journal Articles

• Phenylketonuria

Related Issues

• Sugar Substitutes American Academy of Family Physicians

Symptoms

• What Are Common Symptoms of Phenylketonuria (PKU)? Eunice Kennedy Shriver National Institute of Child Health and Human Development

Treatments and Therapies

• What Are Common Treatments for Phenylketonuria (PKU)? Eunice Kennedy Shriver National Institute of Child Health and Human Development