Mild hyperphenylalaninemia

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Mild hyperphenylalaninemia

Synonyms: Mild HPA | Non-PKU HPA | mHPA

A rare form of phenylketonuria an inborn error of amino acid metabolism characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function and behavioral and developmental disorders.

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

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Mild hyperphenylalaninemia?

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Advocacy Organizations

Intermountain PKU and Allied Disorders. Association

The Intermountain PKU and Allied Disorders Association is dedicated to providing support and services to individuals and families with PKU and allied disorders. Our mission is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these rare conditions.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

PO”UAP PKU “Special children”

Help for patients and families with phenylketonuria

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.