Also Known As
6-pyruvoyl tetrahydropterin synthase deficiency6-pyruvoyl-tetrahydropterin synthase deficiencyBH4-deficient hyperphenylalaninemia ABh4-deficient hyperphenylalaninemia type AHPABH4APTS deficiencyhyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiencyhyperphenylalaninemia, BH4-deficient Ahyperphenylalaninemia, Bh4-deficient, type atetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiencyPTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, includedhyperphenylalanemia, BH4-deficient, Ahyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiencyhyperphenylalaninemia, BH4-deficient, Ahyperphenylalaninemia, BH4-deficient, type Ahyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiencyhyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency
Definition
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.