This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
|5%-29% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
|Percent of people who have these symptoms is not available through HPO|
|Attention deficit hyperactivity disorder||
Attention deficit disorder
Attention deficit-hyperactivity disorder
Childhood attention deficit/hyperactivity disorder
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)
High blood phenylalanine level in mother
Obsessive compulsive behavior
|Reduced phenylalanine hydroxylase activity||0005982|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Learn more orphan products.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The National PKU Alliance and NORD Launch Largest-Ever Study of PKU
January 25, 2017
FDA Patient Representative Program
January 11, 2017
New Rare Disease Patient Video Series
July 18, 2016
National PKU Alliance Research Update
May 19, 2016
Phenylketonuria Scientific Review Conference: State of the Science and Future Research Needs
Wednesday, February 22, 2012 -
Thursday, February 23, 2012
Location: NIH Natcher Conference Center, Bethesda, MD
Description: Together, the PKU Scientific Conference and the Evidence-based Practice Center report will provide evidence on important issues, recommend future research, and provide guidance to patients, their families, and health care professionals.
Contact: Dr. Melissa Parisi,(301) 496-1383 email@example.com
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Is it true that PKU testing became a test for all babies in the 1960's? If both parents have the gene, why aren't they affected by PKU early in or later in their lives? What is the chance of false positives/false negatives on the first PKU test taken at the hospital for an infant? See answer