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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mitochondrial complex II deficiency


Other Names for this Disease
  • Succinate dehydrogenase deficiency
  • Complex 2 mitochondrial respiratory chain deficiency
  • Isolated mitochondrial respiratory chain complex II deficiency
  • Isolated succinate-coenzyme Q reductase deficiency
  • Isolated succinate-CoQ reductase deficiency
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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.[1] Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes.[1][2][3] In many cases the underlying gene mutations cannot be identified.[2] 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.[1]

Last updated: 4/15/2015

References

  1. 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.
  2. 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.
  3. 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.
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In Depth Information

  • 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Succinate dehydrogenase deficiency
  • Complex 2 mitochondrial respiratory chain deficiency
  • Isolated mitochondrial respiratory chain complex II deficiency
  • Isolated succinate-coenzyme Q reductase deficiency
  • Isolated succinate-CoQ reductase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.