Maternal phenylketonuria

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Synonyms: Hyperphenylalaninemic embryopathy | Maternal PKU | Maternal hyperphenylalaninemia | Phenylketonuric embryopathy

A rare disorder of phenylalanine (Phe) metabolism an inborn error of amino acid metabolism characterized by the development of microcephaly growth retardation congenital heart disease facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.

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 Data version June 2024

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Maternal 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.