Tetrahydrobiopterin Deficiency

Tetrahydrobiopterin Deficiency, also known as hyperphenylalaninemia, non-phenylketonuric, is related to hyperphenylalaninemia, bh4-deficient, b and hyperphenylalaninemia, bh4-deficient, a. An important gene associated with Tetrahydrobiopterin Deficiency is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs D-Phenylalanine and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related phenotype is Increased shRNA abundance (Z-score > 2).