Phenylketonuria
Synonyms: PAH deficiency | PKU | Phenylalanine hydroxylase deficiency
A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated the disorder manifests with mild to severe mental disability.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Phenylketonuria?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
National PKU Alliance
The National PKU Alliance works to improve the lives of families and individuals associated with PKU through research, support, education and advocacy, while ultimately seeking a cure.
flok Health (formerly National PKU News)
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.