Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Definition
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.
Also known as CADH deficiency, dehydratase deficiency, hyperphenylalaninemia due to dehydratase deficiency, hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency, hyperphenylalaninemia with primapterinuria, hyperphenylalaninemia, Bh4-deficient, type D, PCBD deficiency, PCBD1 deficiency, PCD deficiency, pterin-4 alpha-carbinolamine dehydratase 1 deficiency — per MONDO