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|
High urine amino acid levels
Increased levels of animo acids in urine[ more ]
|30%-79% of people have these symptoms|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
|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|
Aggressiveness[ more ]
Excessive, persistent worry and fear
|Attention deficit hyperactivity disorder||
Attention deficit disorder
Attention deficit-hyperactivity disorder
Childhood attention deficit/hyperactivity disorder[ more ]
Clouding of the lens of the eye
Cloudy lens[ more ]
Abnormal deposits of calcium in the brain
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)[ more ]
Pale pigmentation[ more ]
|Increased level of hippuric acid in urine||0410066|
Mental retardation, nonspecific
Mental-retardation[ more ]
High blood phenylalanine level in mother
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Obsessive compulsive behavior
|Prenatal maternal abnormality||0002686|
|Reduced phenylalanine hydroxylase activity||0005982|
Self mutilation[ more ]
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.
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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
PKU should be distinguished from BH4 deficiency.
Visit the Orphanet disease page for more information.
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
National PKU Alliance Research Update
May 19, 2016
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