has material basis in germline mutation in PTS BH4-deficient hyperphenylalaninemia A https://www.malacards.org/card/hyperphenylalaninemia_bh4_deficient_a 6-pyruvoyl-tetrahydropterin synthase deficiency hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency GARD:0005682 MONDO:0009863 hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency MESH:C535325 An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. hyperphenylalaninemia, BH4-deficient, type A BH4-deficient hyperphenylalaninemia A Bh4-deficient hyperphenylalaninemia type A NCIT:C138171 hyperphenylalaninemia, BH4-deficient, A hyperphenylalanemia, BH4-deficient, A DOID:0090106 HPABH4A MEDGEN:209234 Orphanet:13 hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included UMLS:C0878676 OMIM:261640 PTS deficiency SCTID:237914002 6-pyruvoyl tetrahydropterin synthase deficiency hyperphenylalaninemia, Bh4-deficient, type a hyperphenylalaninemia, BH4-deficient A hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency