About The Medical Condition Oxidase Deficiencies, Cytochrome-c
Find the definition of the medical term Oxidase Deficiencies, Cytochrome-c. Oxidase Deficiencies, Cytochrome-c defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Oxidase Deficiencies, Cytochrome-c
| Oxidase Deficiencies, Cytochrome-c Medical Condition |
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What's The Definition Of The Medical Condition Oxidase Deficiencies, Cytochrome-c?
A disease that results from a congenital defect in CYTOCHROME-C OXIDASE. Defects in cytochrome-c oxidase can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. Cytochrome-c oxidase 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)
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