Primary mitochondrial diseases share in common an impaired ability to generate energy. Highly heterogeneous in etiology and phenotypes, primary mitochondrial diseases are collectively the most common inherited metabolic disorder and affect at least 1 in every 4,300 individuals. Now recognized to result from pathogenic variants in several hundred different genes, mitochondrial disease can be difficult to diagnose, is often misdiagnosed, and maybe challenging to manage given the multi-system involvement. However, there have emerged consensus management guidelines to standardize and improve patient outcomes.

This symposium will provide up to date information for clinicians on the best diagnostic approaches, disease management practices, and emerging therapies. Sessions will include presentations and discussions with multiple mitochondrial disease clinicians and subspecialist experts, mitochondrial disease patients directly sharing their stories and experiences, and world leaders in Mitochondrial Medicine.

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