Dehydratase deficiency PCBD deficiency ICD10:E70.1 CADH deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency OMIM:264070 Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), 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. PCD is inherited in an autosomal recessive manner. orphanet Hyperphenylalaninemia