Skip navigation
Results 1 - 2 of 2 for "6-pyruvoyltetrahydropterin"
  1. ... gene provides instructions for making an enzyme called 6-pyruvoyltetrahydropterin synthase. This enzyme is involved in the second ... by PTS gene mutations, it is known as 6-pyruvoyltetrahydropterin synthase (PTS) deficiency. PTS deficiency accounts for more ...
  2. ... outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis. 2006 Feb; ...