Nemoci způsobené vrozenou poruchou respiračního komplexu IV. Tyto poruchy mohou být vyvolané mutacemi genů SURF1, SCO2, COX10 nebo SCO1. Mutace genu SURF1 se projeví jako Leighova nemoc, genu SCO2 jako fatální infantilní kardioencefalomyopatie, genu COX10 jako tubulopatie a leukodystrofie a genu SCO1 jako časné selhání jater a neurologická porucha.

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)

DUI

D030401 MeSH Prohlížeč

CUI

M0335492

Předchozí užití

Cytochrome-c Oxidase/deficiency (1976-2001); Leigh Disease (1997-2001)

Historická pozn.

2002

Veřejná pozn.

2002