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Cytochrome-c Oxidase Deficiency Summary

Description: A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)

Also Known As: Cytochrome Oxidase Deficiency; Deficiency, Cytochrome-c Oxidase; Cytochrome Oxidase Deficiencies; Cytochrome c Oxidase Deficiency; Cytochrome-c Oxidase Deficiencies Show All >>

Networked: 123 relevant articles (3 outcomes, 12 trials/studies) for this Disease

Key Drugs and Agents for Cytochrome-c Oxidase Deficiency

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Electron Transport Complex IV (Cytochrome c Oxidase) : 1 outcome 2 studies in 20 results : IBA
  2. DNA (Deoxyribonucleic Acid) : 1 outcome in 6 results : IBA
  3. alternative oxidase : 1 outcome in 6 results : IBA
  4. Pyruvic Acid (Pyruvate) : 1 outcome in 5 results : IBA
  5. Zidovudine (Retrovir) : 1 outcome in 4 results : FDA 42 Generic
  6. Sodium : 1 outcome in 1 result : IBA
  7. Copper : 2 studies in 11 results : IBA
  8. Mitochondrial DNA (mtDNA) : 1 study in 17 results : IBA
  9. Lactic Acid : 1 study in 6 results : FDA 4 Generic
  10. Oxidoreductases : 1 study in 5 results : IBA
Show All >>

Diseases Related to Cytochrome-c Oxidase Deficiency

  1. Mitochondrial Myopathies (Mitochondrial Myopathy)
  2. Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
  3. Glycogen Storage Disease (Glycogenosis)
  4. Motor Neuron Disease (Primary Lateral Sclerosis)
  5. Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
Show All >>

Key Therapies for Cytochrome-c Oxidase Deficiency

Efficacy Chart >>
  1. Heart Transplantation (Grafting, Heart) : 1 result
  2. Denervation : 1 result

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