Grant: Project Grant

Ketogenesis deficiencies are rare genetic disorders that prevent the body from producing ketone bodies, essential energy sources during fasting or illness. These conditions can trigger life-threatening metabolic crises, particularly in young children. While current treatments help manage symptoms, they do not address the underlying metabolic imbalances, highlighting the urgent need for innovative therapies. Our lab has identified a promising compound that can safely and effectively raise ketone levels through an alternative pathway, bypassing the defective enzymes associated with ketogenesis deficiencies. Preliminary studies have shown that administering this compound prevents severe symptoms and improves survival in mouse models of the condition. This project focuses on uncovering the molecular mechanisms behind this compound's action by studying its effects on cellular signaling, gene expression, and metabolism. Our research has the potential to transform treatment strategies and significantly improve outcomes for children affected by these challenging disorders.