Phenylketonuria

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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 February 2024

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Phenylketonuria?

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Advocacy Organizations

FamilieSCN2A Foundation

We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.

Maryland Alliance of PKU Families

The Maryland Alliance of PKU Families was started in 1994 by parents of children that have PKU to promote the health and well-being of persons with PKU. The inaugural event, Camp Huber for people with PKU and their families/support persons, combined educational experiences with networking and entertainment, where PKU food was on the menu and no explanations of diet were needed.

Clinical Trials

For a list of clinical trials in this disease area, please click here.