Shirley Dong and Madalyn Charnego
Adenylosuccinate Lyase Deficiency (ADSL) is a rare genetic disease resulting in inborn errors of purine synthesis. ADSL catalyzes two reactions, SAICAR and S-AMP, in the de novo purine synthesis pathway. Loss of enzymatic function results in toxic accumulation of SAICAR and S-AMP. We modeled behavioral learning phenotypes of ADSL in deficient C. elegans using Associative Learning and Chemotaxis Assay. We treated the disordered phenotype by targeting the molecular mechanisms causing the disease with Lometrexol.