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.
MONDO:0016543
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
is_a
CADH deficiency
exact
HPABH4D
related
PCBD deficiency
exact
PCBD1 deficiency
exact
PCD deficiency
exact
dehydratase deficiency
exact
hyperphenylalaninemia due to dehydratase deficiency
exact
hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
exact
hyperphenylalaninemia with primapterinuria
exact
hyperphenylalaninemia, BH4-deficient, D
related
hyperphenylalaninemia, Bh4-deficient, type D
exact
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
exact
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
related
SPAC27D7.04