Mild phenylketonuria

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Mild phenylketonuria?

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Advocacy Organizations

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.

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Clinical Trials

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