The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Aminoaciduria | 90% |
| Cognitive impairment | 50% |
| Aggressive behavior | - |
| Anxiety | - |
| Attention deficit hyperactivity disorder | - |
| Autosomal recessive inheritance | - |
| Blue irides | - |
| Cataract | - |
| Cerebral calcification | - |
| Dry skin | - |
| Eczema | - |
| Fair hair | - |
| Generalized hypopigmentation | - |
| Hyperphenylalaninemia | - |
| Hyperreflexia | - |
| Intellectual disability | - |
| Irritability | - |
| Maternal hyperphenylalaninemia | - |
| Microcephaly | - |
| Obsessive-compulsive behavior | - |
| Phenylpyruvic acidemia | - |
| Psychosis | - |
| Reduced phenylalanine hydroxylase activity | - |
| Scleroderma | - |
| Seizures | - |
| Self-mutilation | - |
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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 parisima@mail.nih.gov
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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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
