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