Open access
Sep 2026
PHD Inhibitor Vadadustat: The First Drug Therapy for Triosephosphate Isomerase Deficiency
Background/Objectives: Triosephosphate isomerase deficiency (TPI Df) is an ultra-rare autosomal recessive glycolytic disorder characterized by symptoms of hemolytic anemia, progressive neuromuscular dysfunction, and early mortality. The TPI1E105D mutation (TPI1 variant p.Glu105Asp) accounts for most cases, though TPI D...
Emmanuel Scalais, Priyal S. Patel, Sidney L. Satterfield et al.
· Genes · 0 citations