BH4-deficient hyperphenylalaninemia A (DOID:0090106)
Alliance: disease page
Synonyms: 6-pyruvoyl-tetrahydropterin synthase deficiency; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; PTS deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
Alt IDs: OMIM:261640, MESH:C535325, NCI:C138171, ORDO:13, UMLS_CUI:C0878676
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.