Maternal phenylketonuria

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Maternal phenylketonuria

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 http: // Data version October 2023.

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Maternal phenylketonuria?

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Advocacy Organizations

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).

Clinical Trials

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