has material basis in germline mutation in PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 deficiency https://github.com/monarch-initiative/mondo/issues/7924 https://www.malacards.org/card/hyperphenylalaninemia_bh4_deficient_d hyperphenylalaninemia with primapterinuria SCTID:124646004 CADH deficiency ICD9:277.6 PCBD deficiency MONDO:0009908 hyperphenylalaninemia due to dehydratase deficiency PCBD1 deficiency OMIM:264070 hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency Orphanet:1578 PCD deficiency HPABH4D 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. dehydratase deficiency hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency GARD:0002843 UMLS:C1849700 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency hyperphenylalaninemia, BH4-deficient, D MESH:C538382 This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband. DOID:0081131 hyperphenylalaninemia, Bh4-deficient, type D pterin-4 alpha-carbinolamine dehydratase deficiency MEDGEN:337890 hyperphenylalaninemia due to tetrahydrobiopterin deficiency