Pterin-4 alpha-carbinolamine dehydratase deficiency

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Pterin-4 alpha-carbinolamine dehydratase deficiency

Synonyms: Hyperphenylalaninemia due to dehydratase deficiency | Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency | Hyperphenylalaninemia with primapterinuria

A rare genetic transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia irritability (detected by EEG) slow acquisition of psychomotor skills age-dependent movement disorders including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.

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 September 2023.

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Pterin-4 alpha-carbinolamine dehydratase 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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