Mitochondrial complex II deficiency
- Complex 2 mitochondrial respiratory chain deficiency
- Succinate CoQ reductase deficiency
- Mitochondrial respiratory chain complex II deficiency
- Succinate dehydrogenase deficiency
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.
- Jackson CB et al.,. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. J Med Genet. 2014 Mar; 51(3):170-5. http://www.ncbi.nlm.nih.gov/pubmed/ 24367056. Accessed 4/16/2015.
- Ma YY et al.,. Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy. Brain Dev. 2014 May; 36(5):394-8. http://www.ncbi.nlm.nih.gov/pubmed/ 23849264. Accessed 4/16/2015.
- Alston CL et al.,. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet. 2012 Sep; 49(9):569-77. http://www.ncbi.nlm.nih.gov/pubmed/ 22972948. Accessed 4/16/2015.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mitochondrial complex II deficiency. Click on the link to view a sample search on this topic.
- Hesterlee S. Mitochondrial Disease in Perspective Symptoms, Diagnosis and Hope For the Future. 2004. Mitochondria Research Society.
- Ohlenbusch A et al., Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Orphanet Journal of Rare Diseases 2012, 7:69.