Phenylketonuria Summary 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 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 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 National Institute of Child Health and Human Development Living With Are Artificial Sweeteners OK to Consume during Pregnancy? Nemours Foundation 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 Clinical Trials ClinicalTrials.gov: Phenylketonurias National Institutes of Health Adults Essentials of PKU for Young Adults with PKU and Their Significant Others University of Washington PKU Clinic 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 Diagnosis and Tests How Do Health Care Providers Diagnose Phenylketonuria (PKU)? National Institute of Child Health and Human Development Find an Expert March of Dimes Birth Defects Foundation March of Dimes Birth Defects Foundation National Institute of Child Health and Human Development National Institute of Child Health and Human Development Start Here Phenylketonuria Mayo Foundation for Medical Education and Research Phenylketonuria (PKU) National Institute of Child Health and Human Development PKU (Phenylketonuria) in Your Baby March of Dimes Birth Defects Foundation Array Phenylketonuria Serum phenylalanine screening Journal Articles Phenylketonuria Related Issues Sugar Substitutes: Aspartame American Academy of Family Physicians Symptoms What Are Common Symptoms of Phenylketonuria (PKU)? National Institute of Child Health and Human Development Treatments and Therapies What Are Common Treatments for Phenylketonuria (PKU)? National Institute of Child Health and Human Development Videos and Tutorials What Is Phenylketonuria (PKU)? Dolan DNA Learning Center
