Pterin-4 alpha-carbinolamine dehydratase deficiency

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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://www.orphadata.org. Data version May 2024

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