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. 2024 Nov 26;19:438. doi: 10.1186/s13023-024-03429-x

Fig. 1.

Fig. 1

Location and metabolic activity of Adenylosuccinate Synthetase 1 (ADSS1) within purine metabolism. Loss of ADSS1 function compromises the conversion of inosine monophosphate (IMP), generated by de novo purine biosynthesis and adenosine monophosphate deaminase (AMPD), to succinyl-AMP/adenylosuccinate (S-AMP) and adenosine monophosphate (AMP). Energy production capacity may be reduced. IMP may be diverted into other reactions and/or degraded and excreted from muscle leading to purine depletion. Potential targets for restoration of metabolic systems are indicated in numbered circles: (1) Overexpression of mitochondrial ADSS2; (2) Inhibition of xanthine oxidoreductase (XOR); (3) Inhibition of AMP deaminase (AMPD); (4) Targeting recycling pathways to increase adenosine concentration; (5) Supplemental adenine combined with XOR inhibition; (6) Supplemental fumarate esters; (7) Supplemental ATP. Schematic was created with Biorender.com