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 |
|---|
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)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Child Mortalities ‐ Perinatal, neonatal, and infant deaths in a given…
- Allotype, kappa ‐ Hereditary serologic types based on antigenic differences in…
- Conformation, Carbohydrate ‐ The characteristic 3-dimensional shape of a…
- Heymanns Antigen ‐ A complex of antigenic proteins obtained from the brush border…
- Animal Helminthiases ‐ Infestation of animals with parasitic worms of the helminth class.…
- Wheat ‐ The most nutritious of the cereal grasses (POACEAE), Triticum…
- Glycerol Ethers ‐ Compounds in which one or more of the three hydroxyl groups of…
- Organothiophosphorus Compounds ‐ Compounds containing carbon-phosphorus bonds in which the phosphorus…
- Surgical Procedures, Minor ‐ Surgery restricted to the management of minor problems and injuries;…
- Macrophage Inflammatory Proteins ‐ Heparin-binding proteins that exhibit a number of inflammatory…