Ett sjukdomstillstånd som beror på en medfödd defekt i enzymet cytokrom c-oxidas. Defekter i cytokrom c-oxidas kan orsakas av mutationer i SURF1-, SCO2-, COX10- eller SCO1-generna. Cytokrom c-oxidasbrist till följd av SURF1-mutation yttrar sig som Leighs sjukdom; SCO2-mutation leder till dödlig infantil cardioencefalomyopati; mutation i COX10 ger tubulopati och leukodystrofi; och SCO1-mutation manifesterar sig som tidig leversvikt och neurologiska störningar.
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)
Inga svenska synonymer finns.
Cytochrome-c Oxidase Deficiencies — Deficiencies, Cytochrome-c Oxidase — Oxidase Deficiencies, Cytochrome-c — Oxidase Deficiency, Cytochrome-c — Cytochrome C Oxidase Deficiency — Complex IV Deficiency — Complex IV Deficiencies — Deficiencies, Complex IV — Deficiency, Complex IV — Deficiency, Cytochrome-c Oxidase — Deficiency, Cytochrome c Oxidase — Mitochondrial Complex IV Deficiency — Cox Deficiency — Cox Deficiencies — Deficiencies, Cox — Deficiency, Cox — Cytochrome Oxidase Deficiency — Cytochrome Oxidase Deficiencies — Deficiencies, Cytochrome Oxidase — Deficiency, Cytochrome Oxidase — Oxidase Deficiencies, Cytochrome — Oxidase Deficiency, Cytochrome