Mitochondrial complex II deficiency


Disease Overview

Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don’t work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood.[8676] Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes.[8676][8677][8678] In many cases the underlying gene mutations cannot be identified.[8677] Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.[8676]


  • Succinate dehydrogenase deficiency
  • Complex 2 mitochondrial respiratory chain deficiency
  • Succinate CoQ reductase deficiency
  • Mitochondrial respiratory chain complex II deficiency

For more information, visit GARD.

National Organization for Rare Disorders