BH4-deficient hyperphenylalaninemia B (DOID:0112225)
Alliance: disease page
Synonyms: GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahydrobiopterin-deficient hyperphenylalaninemia B
Alt IDs: OMIM:233910, ORDO:2102
Definition: A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2.