Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Synonyms: Hyperphenylalaninemia due to BH4 deficiency | Non-phenylketonuric hyperphenylalaninemia

An amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly intellectual disability central hypotonia delayed motor development peripheral spasticity and seizures that develop and persist despite an established metabolic control of plasma phenylalanine.

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 September 2023.

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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency?

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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

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