Synonyms: Mild PKU | Variant PKU | Variant phenylketonuria | mPKU
A mild to moderate form of phenylketouria (PKU) an inborn error of amino acid metabolism characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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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.
PO”UAP PKU “Special children”
Help for patients and families with phenylketonuria
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.
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.
Canadian PKU and Allied Disorders (CanPKU)
To help those who live with rare diseases that are manage by a restricted protein medical diet bringing education, awareness and advocacy to the community
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Genetic Epilepsy Team Australia
Collaboration of research and care
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
For a list of clinical trials in this disease area, please click here.