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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cytochrome c oxidase deficiency


Other Names for this Disease
  • Mitochondrial complex IV deficiency
  • Complex 4 mitochondrial respiratory chain deficiency
  • Deficiency of mitochondrial respiratory chain complex4
  • COX deficiency
  • Complex IV deficiency
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Overview

Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. There are four types of COX deficiency differentiated by symptoms and age of onset: benign infantile mitochondrial type, French-Canadian type, infantile mitochondrial myopathy type, and Leigh syndrome.[1] The range and severity of signs and symptoms can vary widely among affected individuals (even within the same subtype and same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by mutations in any of at least 14 genes; the inheritance pattern depends on the gene involved. The condition is frequently fatal in childhood, but mildly affected individuals may survive into adolescence or adulthood.[2]
Last updated: 5/19/2016

References

  1. Cytochrome C Oxidase Deficiency. NORD. 2015; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1088/viewAbstract. Accessed 4/17/2013.
  2. Cytochrome c oxidase deficiency. Genetics Home Reference. October 2012; http://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency. Accessed 4/17/2013.
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Basic Information

In Depth Information

  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cytochrome c oxidase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Mitochondrial complex IV deficiency
  • Complex 4 mitochondrial respiratory chain deficiency
  • Deficiency of mitochondrial respiratory chain complex4
  • COX deficiency
  • Complex IV 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.