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Diseases

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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Treatment


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How might cytochrome C oxidase deficiency be treated?

There is currently no cure for cytochrome C oxidase (COX) deficiency. Management of all forms of COX deficiency generally focuses on the specific symptoms present in the affected individual and is largely supportive. The goals of treatment are to improve symptoms and slow progression of the disease; the effectiveness of treatment varies with each individual.[1][2] Treatment generally does not reverse any damage that has already occurred.[1] Prognosis varies depending on the form of COX deficiency present.[2] Individuals with benign infantile mitochondrial myopathy may experience spontaneous recovery (although early diagnosis and intensive treatment is still needed until this point), while there may be rapid demise in individuals with Leigh syndrome.[2]

It is often recommended that individuals with mitochondrial disorders such as COX deficiency avoid fasting. Dehydration due to vomiting or illness may be treated with intravenous fluid if the individual is not able to take fluids orally. Seizures are typically controlled with anticonvulsants. Some affected individuals may benefit from physical, occupational, and speech therapies that are specifically tailored to their needs.[1] Dietary supplements including certain vitamins and cofactors have shown varying degrees of benefit in individual cases.[2]

Individuals interested in specific management recommendations for themselves or relatives should speak with their healthcare providers.
Last updated: 4/23/2013

References
  1. Gropman AL. Diagnosis and treatment of childhood mitochondrial diseases. Curr Neurol Neurosci Rep. March 2001; 1(2):185-194.
  2. PATRICK F. CHINNERY. Chapter 429: Muscle Diseases. GOLDMAN'S CECIL MEDICINE, 24TH EDITION. Philadelphia, PA: Saunders; 2011;


Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Mitochondrial complex IV deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.