LIPT1

Lipoyltransferase 1 (LIPT1), also called lipoate protein ligase 1 mitochondrial, is a core mitochondrial enzyme that catalyzes lipoyl group transfer to E2 subunits of pyruvate dehydrogenase complex (PDC) and alpha-ketoglutarate dehydrogenase complex (KGDHC). These complexes are essential for tricarboxylic acid (TCA) cycle and oxidative phosphorylation, supporting cellular energy production.
LIPT1 deficiency causes hereditary metabolic disorders with early-onset lactic acidosis, encephalopathy, and cardiomyopathy. Currently, no specific therapy exists; research focuses on R-lipoic acid supplementation or gene editing strategies to restore lipoylation, though these remain in preclinical stages.