"tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency"@en . . _:vb50942267 . . _:vb50942267 . . "MESH:C535325"^^ . "DOID:0090106"^^ . "UMLS_CUI:C0878676"^^ . "GARD:5682"^^ . _:vb50942267 . "SNOMEDCT_US_2021_09_01:237914002"^^ . "NCI:C138171"^^ . "An amino acid metabolic disorder 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."^^ . "HPABH4A"@en . "OMIM:261640"^^ . "6-pyruvoyl-tetrahydropterin synthase deficiency"@en . "ORDO:13"^^ . . _:vb50942267 . _:vb50942267 . "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"@en . "disease_ontology"^^ . "PTS deficiency"@en . "BH4-deficient hyperphenylalaninemia A"^^ . .