Cytochrome-c Oxidase Deficiency [deficit cytochrom-c-oxidázy]
- Terms
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cytochrom-c-oxidasa - nedostatek
deficit COX
deficit komplexu IV dýchacího řetězce
nedostatek cytochrom-c-oxidázy
nedostatek cytochromální oxidázy
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Complex IV Deficiency
Cox Deficiency
Cytochrome C Oxidase Deficiency
Cytochrome Oxidase Deficiency
Deficiency, Cytochrome-c Oxidase
Mitochondrial Complex IV 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)
- DUI
- D030401 MeSH Browser
- CUI
- M0335492
- Previous indexing
- Cytochrome-c Oxidase/deficiency (1976-2001); Leigh Disease (1997-2001)
- History note
- 2002
- Public note
- 2002
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 1
- DI
- diagnosis 8
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 1
- EP
- epidemiology 1
- EH
- ethnology 0
- ET
- etiology 0
- GE
- genetics 16
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 4
- MI
- microbiology 0
- MO
- mortality 1
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 2
- PP
- physiopathology 3
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 0
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0