PHD Inhibitor Vadadustat: The First Drug Therapy for Triosephosphate Isomerase Deficiency

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27 Oct 2026 0 comments

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 TPI1^(E105D) mutation (TPI1 variant p.Glu105Asp) accounts for most cases, though TPI Df can also arise from other pathogenic variants, including compound heterozygous TPI1 variants such as TPI1^(R5G/f.s) (p.(Arg5Gly)/p.(Ile151Serfs*3)). TPI1^(R5G/f.s) presents...