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: Oxidase Deficiency, Cytochrome-c Cox Deficiencies Deficiency, Cox Complex IV Deficiency Deficiency, Cytochrome Oxidase Oxidase Deficiencies, Cytochrome-c Deficiency, Cytochrome-c Oxidase Cytochrome C Oxidase Deficiency Cytochrome Oxidase Deficiency Deficiencies, Cytochrome-c Oxidase Deficiencies, Complex IV Deficiencies, Cox Deficiency, Complex IV Cytochrome Oxidase Deficiencies Deficiency, Cytochrome c Oxidase Deficiencies, Cytochrome Oxidase Oxidase Deficiencies, Cytochrome Complex IV Deficiencies Mitochondrial Complex IV Deficiency Cytochrome-c Oxidase Deficiencies Cox Deficiency Oxidase Deficiency, Cytochrome Cytochrome-c Oxidase Deficiency