adenylosuccinic acid

Adenylosuccinic acid (ASA) is a purine nucleotide cycle metabolite that serves as a critical intermediate in the synthesis of adenosine monophosphate (AMP) from inosine monophosphate (IMP). It is currently being developed as a substrate replacement therapy for Adenylosuccinate Synthase 1 (ADSS1) deficient myopathy, a rare genetic muscle disorder where the lack of the ADSS1 enzyme prevents the endogenous production of ASA, leading to metabolic insufficiency and muscle wasting. By providing ASA exogenously, the treatment aims to bypass the enzymatic block and restore the purine nucleotide cycle, thereby improving energy production in skeletal muscle. Preclinical research also suggests that ASA may be beneficial in Duchenne Muscular Dystrophy (DMD) by enhancing mitochondrial function, reducing oxidative stress, and improving muscle histopathology.

Other names

ASAadenylosuccinateN-(9-beta-D-ribofuranosylpurin-6-yl)-L-aspartic acid 5'-phosphate