ADSL (adenylosuccinate lyase) deficiency is a rare genetic disorder affecting purine metabolism and causing various clinical symptoms.
Common symptoms include seizures, delayed psychomotor development, muscle ataxia, autistic features, hypotonia...
There is no approved therapy for ADSLd.
Advancing research and developing effective therapy are vital for enhancing the lives of children with ADSLd.
Gene therapy holds a promise for treating this severe neurometabolic disease.