BH4-deficient hyperphenylalaninemia A

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.

Also known as: 6-pyruvoyl tetrahydropterin synthase deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency, BH4-deficient hyperphenylalaninemia A, Bh4-deficient hyperphenylalaninemia type A, HPABH4A, PTS deficiency, hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, hyperphenylalaninemia, BH4-deficient A

0 clinical trials for this condition and its sub-types.