Pterin-4 alpha-carbinolamine dehydratase deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version May 2024

Newly diagnosed with
Pterin-4 alpha-carbinolamine dehydratase deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

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