About The Medical Condition Oxidase Deficiencies, Cytochrome
Find the definition of the medical term Oxidase Deficiencies, Cytochrome. Oxidase Deficiencies, Cytochrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Oxidase Deficiencies, Cytochrome
| Oxidase Deficiencies, Cytochrome Medical Condition |
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What's The Definition Of The Medical Condition Oxidase Deficiencies, Cytochrome?
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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