Cytochrome-c Oxidase Deficiency

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; Deficiencies, Cytochrome Oxidase; Deficiencies, Cytochrome-c Oxidase; Deficiency, Cytochrome Oxidase; Deficiency, Cytochrome c Oxidase; Oxidase Deficiencies, Cytochrome; Oxidase Deficiencies, Cytochrome-c; Oxidase Deficiency, Cytochrome; Oxidase Deficiency, Cytochrome-c
Networked: 123 relevant articles (3 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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)


1. Jacobs, Howard T: 5 articles (01/2015 - 04/2009)
2. Rustin, Pierre: 4 articles (01/2015 - 04/2009)
3. Dufour, Eric: 3 articles (01/2015 - 04/2009)
4. Taylor, Robert W: 3 articles (09/2014 - 03/2009)
5. Zeviani, Massimo: 3 articles (09/2014 - 03/2002)
6. Morin, Charles: 3 articles (08/2004 - 01/2003)
7. Leary, Scot C: 2 articles (06/2015 - 05/2008)
8. Ohtake, Akira: 2 articles (12/2014 - 03/2010)
9. Murayama, Kei: 2 articles (12/2014 - 03/2010)
10. Kemppainen, Kia K: 2 articles (10/2014 - 04/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cytochrome-c Oxidase Deficiency:
1. Electron Transport Complex IV (Cytochrome c Oxidase)IBA
2. DNA (Deoxyribonucleic Acid)IBA
3. alternative oxidaseIBA
4. Pyruvic Acid (Pyruvate)IBA
5. Zidovudine (Retrovir)FDA LinkGeneric
6. SodiumIBA
7. CopperIBA
8. Mitochondrial DNA (mtDNA)IBA
9. Lactic AcidFDA LinkGeneric
10. OxidoreductasesIBA
02/01/1989 - "Stable-isotope tracer experiments performed in vitro are evaluated for their utility in differentiating between pyruvate dehydrogenase and cytochrome oxidase deficiencies, two of several enzyme defects commonly associated with the lactic acidemias. "
01/01/1993 - "To confirm the specificity of these studies in differentiating primary from secondary carnitine deficiency disorders, we have studied carnitine uptake in the cultured skin fibroblasts from 5 children who have various enzymatic defects in intramitochondrial beta-oxidation including short-chain, medium-chain and long-chain acyl-CoA dehydrogenase and short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiencies, and in 4 children with cytochrome oxidase deficiency. "
01/01/1994 - "In fibroblasts from patients with complex IV (cytochrome c oxidase) deficiency or glutaricaciduria type II, phytanic acid alpha-oxidation was reduced to 14% of normal, whereas in myoblasts from patients with complex I (NADH-Q reductase) deficiency, it was normal. "
10/01/1992 - "We found that cells from patients with most forms of cytochrome oxidase deficiency, cells with complex I deficiency, cells with multiple respiratory chain defects and cells with severe pyruvate dehydrogenase (PDH) complex deficiency failed to survive when subcultured into galactose (5 mM) medium. "
04/01/1999 - "Disorders of glycogen, lipid, or mitochondrial metabolism may cause three main clinical syndromes in muscle, namely, (1) progressive weakness with hypotonia (e.g., acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; carnitine uptake and carnitine acylcarnitine translocase defects among the fatty acid oxidation (FAO) defects; and cytochrome oxidase deficiency among the mitochondrial disorders) or (2) acute, recurrent, reversible muscle dysfunction with exercise intolerance and acute muscle breakdown or myoglobinuria (with or without cramps), e.g., phosphorylase, phosphofructokinase, and phosphoglycerate kinase among the glycogenoses and carnitine palmitoyltransferase II deficiency among the disorders of FAO or (3) both (e.g., long-chain or very long-chain acyl coenzyme A (CoA) dehydrogenase, short-chain L-3-hydroxyacyl-CoA dehydrogenase, and trifunctional protein deficiencies among the FAO defects). "

Therapies and Procedures

1. Heart Transplantation (Grafting, Heart)
2. Denervation