Mitochondrial complex II deficiency

What causes mitochondrial complex II deficiency?

Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, and SDHAF2 genes can all potentially cause complex II deficiency. Complex II deficiency is inherited in an autosomal recessive fashion. This means that a person must inherit a gene mutation from both their mother and father in order to develop complex II deficiency. People who have a single mutation are called carriers. Carriers of complex II deficiency may be at an increased risk for certain health problems, including for paragangliomas and/or pheochromocytomas.

Last updated on 05-01-20

How might mitochondrial complex II deficiency be treated?

Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general. The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635 We strongly recommend that you discuss this information with a healthcare provider.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Mitochondrial Disease in Perspective Symptoms, Diagnosis and Hope For the Future.

Last updated on 04-27-20

Mitochondrial Complex II Deficiency Journal Article

Ohlenbusch A et al., Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Orphanet Journal of Rare Diseases 2012, 7:69.

Last updated on 04-27-20

Testing Resources

UMDF Getting a Diagnosis

The United Mitochondrial Disease Foundation (UMDF) has information on Getting a Diagnosis. Click on the UMDF hyperlink above to view the article.

Last updated on 04-27-20

Name: United Mitochondrial Disease Foundation 8085 Saltsburg Road, Suite 201
Pittsburgh, PA, 15239 , United States
Phone: +1-412-793-8077 Toll Free: 1-888-317-8633 Fax : +1-412-793-6477 Email: info@umdf.org Url: https://www.umdf.org
Name: The Mitochondria Research and Medicine Society PO Box 55322
Birmingham, AL,
Phone: 716-907-4349 Fax : 716-845-1047 Email: contact@mitoresearch.org Url: http://www.mitoresearch.org
Name: MitoAction PO Box 51474
Boston, MA, 02205, United States
Phone: 1-888-MITO-411 (648-6411) for support line Toll Free: 1-888-648-6228 Email: info@mitoaction.org Url: https://www.mitoaction.org/

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