Sengers syndrome, also known as cardiomyopathic mitochondrial DNA depletion syndrome-10, is a rare autosomal recessive disorder, caused by mutations in the AGK gene and characterized by congenital cataracts (total or rapidly progressive), hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis.
Two clinical forms have been identified: a severe neonatal form that can cause infantile death due to heart failure consequent to hypertrophic cardiomyopathy, and a benign form with a better prognosis in which surviving patients achieve normal developmental milestones. The pathological mechanism underlying Sengers syndrome remains unclear, although it is thought to involve AGK’s role in lipid metabolism. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms.
AGK