mitochondrial complex II deficiency, nuclear type 1
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. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. 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.
MONDO:0031230
mitochondrial complex II deficiency, nuclear type
is_a
complex 2 mitochondrial respiratory chain deficiency
related
isolated mitochondrial respiratory chain complex II deficiency
exact
isolated succinate-CoQ reductase deficiency
exact
isolated succinate-coenzyme Q reductase deficiency
exact
isolated succinate-ubiquinone reductase deficiency
exact
mitochondrial complex II deficiency, nuclear type 1
exact
mitochondrial respiratory chain complex II deficiency
related
succinate dehydrogenase deficiency
related
SPAC1556.02c SPAC664.12c