Term Name:	BH4-deficient hyperphenylalaninemia A
Synonyms:	6-pyruvoyl-tetrahydropterin synthase deficiency, HPABH4A, hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, PTS deficiency, tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
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 autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
Ontology:	Human Disease [DOID:0090106]   ( DOID:0090106 )