Term Name:	BH4-deficient hyperphenylalaninemia B
Synonyms:	GTP cyclohydrolase 1 deficiency, HPABH4B, tetrahydrobiopterin-deficient hyperphenylalaninemia B
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.
Ontology:	Human Disease [DOID:0112225]   ( DOID:0112225 )