Mitochondrial complex IV deficiency

Common Name(s)

Mitochondrial complex IV deficiency, Cytochrome-c oxidase deficiency

COX deficiency is a mitochondrial disease that is caused by the lack of the cytochrome C oxidase (COX) enzyme.  Enzymes are special proteins that facilitate all of the biochemical reactions in our bodies. COX is an essential enzyme that is active in mitochondria, specialized compartments in our cells that produce almost all of the energy needed by the body. The process by which mitochondria make energy is very complex and involves multiple steps that use many different enzymes, including COX.  The lack of COX causes a 'traffic jam' in this process, and the defective mitochondria cannot produce enough energy for the cells to function properly.  Nearly all our cells rely on mitochondria for a steady energy supply, so COX deficiency can affect many parts of the body. There are several types of COX deficiency, but all share some similar symptoms.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mitochondrial complex IV deficiency" for support, advocacy or research.

MitoAction

MitoAction's mission is to improve the quality of life for everyone affected by mitochondrial disease through support, education, outreach, and advocacy initiatives.

http://www.mitoaction.org/

Last Updated: 4 Mar 2013

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mitochondrial complex IV deficiency" for support, advocacy or research.

MitoAction

MitoAction's mission is to improve the quality of life for everyone affected by mitochondrial disease through support, education, outreach, and advocacy initiatives.

http://www.mitoaction.org/

Last Updated: 4 Mar 2013

View Details
United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Feb 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mitochondrial complex IV deficiency" returned 1 free, full-text research articles on human participants. First 3 results:

Heme deficiency selectively interrupts assembly of mitochondrial complex IV in human fibroblasts: revelance to aging.
 

Author(s): H Atamna, J Liu, B N Ames

Journal: J. Biol. Chem.. 2001 Dec;276(51):48410-6.

 

Heme deficiency was studied in young and old normal human fibroblasts (IMR90). Regardless of age, heme deficiency increased the steady-state level of oxidants and lipid peroxidation and sensitized the cells to fluctuations in intracellular Ca(2+). Heme deficiency selectively decreased ...

Last Updated: 17 Dec 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mitochondrial complex IV deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 18 Nov 2013

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