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Up to: Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, 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 development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.
This condition has no sub-types.