Transforming the natural course of infantile onset thymidine kinase 2 deficiency through early nucleoside replacement therapy | Synapse
April 10, 2026Open Access
Transforming the natural course of infantile onset thymidine kinase 2 deficiency through early nucleoside replacement therapy
Key Points
To evaluate the impact of early nucleoside replacement therapy on motor function and disease progression in infantile-onset thymidine kinase 2 deficiency.
Administered nucleoside therapy to infants diagnosed with TK2 deficiency
Monitored motor function improvements
Assessed disease progression over time
Early therapy halted progression of the disease
Restored motor function in affected infants
Abstract
Early nucleoside therapy halts disease progression and restores motor function in infantile-onset TK2 deficiency, the most severe form of the disease.