Term Name:	tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
Synonyms:
Definition:	An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
Ontology:	Human Disease [DOID:0081132]   ( DOID:0081132 )