Cytochrome-c Oxidase Deficiency
MESHD030401
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)
Synonyms
- Cytochrome-c Oxidase Deficiencies
- Deficiencies, Cytochrome-c Oxidase
- Oxidase Deficiencies, Cytochrome-c
- Oxidase Deficiency, Cytochrome-c
- Cox Deficiency
- Cox Deficiencies
- Deficiencies, Cox
- Deficiency, Cox
- Cytochrome C Oxidase Deficiency
- Cytochrome Oxidase Deficiency
- Cytochrome Oxidase Deficiencies
- Deficiencies, Cytochrome Oxidase
- Deficiency, Cytochrome Oxidase
- Oxidase Deficiencies, Cytochrome
- Oxidase Deficiency, Cytochrome
- Deficiency, Cytochrome-c Oxidase
- Deficiency, Cytochrome c Oxidase
- Mitochondrial Complex IV Deficiency
- Complex IV Deficiency
- Complex IV Deficiencies
- Deficiencies, Complex IV
- Deficiency, Complex IV
Source last updated 2026-05-24T15:25:20.490Z