This educational program will engage clinicians in recognizing and managing thymidine kinase 2 deficiency (TK2d) as a mitochondrial disease. The program integrates evidence-based knowledge with practical clinical applications to deepen understanding of molecular genetic testing, genotype–phenotype correlations, and emerging treatment strategies. Through case studies and patient scenarios, participants will learn to: identify TK2d in pediatric patients by recognizing specific clinical signs and symptoms that necessitate early diagnosis; utilize available molecular genetic tests to confirm TK2d and interpret potential genotype-phenotype correlations; and incorporate emerging treatment and management strategies into routine clinical practice. Point-of-care tools will support reflection and the practical application of learning into practice.