6-pyruvoyl-tetrahydropterin synthase deficiency

From BugSigDB

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.
  • 6-pyruvoyl tetrahydropterin synthase deficiency
  • 6-pyruvoyl-tetrahydropterin synthase deficiency
  • BH4-deficient hyperphenylalaninemia A
  • Bh4-deficient hyperphenylalaninemia type A
  • hyperphenylalanemia, BH4-deficient, A
  • hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency
  • Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
  • hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
  • hyperphenylalaninemia, BH4-deficient A
  • hyperphenylalaninemia, BH4-deficient, A
  • hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency
  • hyperphenylalaninemia, BH4-deficient, type A
  • hyperphenylalaninemia, Bh4-deficient, type a
  • hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency
  • PTS deficiency
  • PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included
  • tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency