Disease association ontology term - MONDO:0009908 - pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Term summary
- ID
- MONDO:0009908
- Name
- pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- Ontology or CV name
- Disease association
- 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.
