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)|
|Attention deficit hyperactivity disorder||-|
|Autosomal recessive inheritance||-|
|Reduced phenylalanine hydroxylase activity||-|
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.
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 firstname.lastname@example.org
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research