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Genetic and Rare Diseases Information Center (GARD)

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Mitochondrial complex IV deficiency


Other Names for this Disease
  • Complex 4 mitochondrial respiratory chain deficiency
  • Complex IV deficiency
  • COX deficiency
  • Cytochrome C oxidase deficiency
  • Deficiency of mitochondrial respiratory chain complex4
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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. The range and severity of signs and symptoms can vary widely among affected individuals (even within the 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.[1]
Last updated: 4/22/2013

References

  1. 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

  • Genetics Home Reference (GHR) contains information on Mitochondrial complex IV deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Mitochondrial complex IV deficiency. Click on the link to view a sample search on this topic.