2,2-dimethylbutanoic acid

HST5040 (2,2-dimethylbutanoic acid) is an investigational oral small molecule therapy developed by HemoShear Therapeutics for the treatment of methylmalonic acidemia (MMA) and propionic acidemia (PA), which are rare genetic metabolic disorders. These diseases are caused by deficiencies in key enzymes required to metabolize certain amino acids, leading to the accumulation of toxic metabolites such as propionyl-coenzyme A (P-CoA) and methylmalonyl-coenzyme A (M-CoA). HST5040 works by being converted into its CoA derivative within cells, which redistributes free and conjugated CoA pools. This process reduces the levels of P-CoA and M-CoA as well as their toxic derivatives, potentially normalizing metabolic function and energy production throughout the body. The drug is designed for convenient daily administration at home as a liquid formulation taken orally or via gastric feeding tube[1][5][7].

Other names

2,2-dimethylbutanoic acid