Dihydropteridine reductase deficiency

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Dihydropteridine reductase deficiency

Synonyms: Hyperphenylalaninemia due to dihydropteridine reductase deficiency | PKU type 2 | Phenylketonuria type 2

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term) leading to decreased levels of neurotransmitters (dopamine serotonin) and folate in cerebrospinal fluid and causing neurological symptoms such as psychomotor delay hypotonia seizures abnormal movements hypersalivation and swallowing difficulties.

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 October 2023.

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Dihydropteridine reductase 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

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