About The Medical Condition Oxidase Deficiency, Cytochrome
Find the definition of the medical term Oxidase Deficiency, Cytochrome. Oxidase Deficiency, Cytochrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Oxidase Deficiency, Cytochrome
| Oxidase Deficiency, Cytochrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Oxidase Deficiency, 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)
|
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
- Theory, Jungian ‐ A theoretical psychoanalytical system centered around symbols…
- American, Chinese ‐ Persons living in the United States having origins in any of…
- Muscles, Palatal ‐ The muscles of the palate are the glossopalatine, palatoglossus,…
- Amstelodamensis, Typus Degenerativus ‐ A syndrome characterized by growth retardation, severe MENTAL…
- Fenestration, Labyrinth ‐ The surgical creation of a new opening in the labyrinth of the…
- Syndrome, Aortitis ‐ Any of a group of disorders leading to occlusion of the arteries…
- Posterior Fossa Tumors ‐ Intracranial tumors originating in the region of the brain inferior…
- Naloxone Hydrobromide ‐ A specific opiate antagonist that has no agonist activity. It…
- Glucose Transport Protein ‐ Membrane transport proteins which bind glucose and sodium ions…
- Complement Inactivators ‐ Serum proteins which act at key sites in the complement sequence…