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A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
Cytosine base editors target common missense mutations in ADSL gene (such as R303C) to restore partial enzyme activity through precise CโT transitions, converting pathogenic codons back to functional amino acids
Metformin activates AMPK to upregulate PRPS1 and PRPS2 expression, increasing PRPP availability for de novo purine synthesis to bypass the metabolic block caused by ADSL deficiency
Creatine enhances phosphocreatine-mediated ATP buffering while D-ribose provides substrate for enhanced PRPP synthesis via ribokinase, creating dual pathway support for energy metabolism disrupted by ADSL deficiency
Rehmannia glutinosa and Cornus officinalis polysaccharides activate AMPK-PGC1ฮฑ signaling to enhance mitochondrial biogenesis and ATP synthesis, compensating for energy deficits caused by disrupted purine metabolism from ADSL deficiency
High-dose folinic acid increases 10-formyl-THF availability to enhance ATIC enzyme activity in the final step of de novo purine synthesis, potentially compensating for upstream disruptions caused by ADSL deficiency
Ashwagandha (Withania somnifera) withanolides and Brahmi (Bacopa monnieri) bacosides upregulate HPRT1 and APRT expression through Nrf2-mediated transcriptional activation, enhancing alternative purine salvage pathways to compensate for deficient ADSL activity