About The Medical Condition Deficiencies, Cytochrome-c Oxidase
Find the definition of the medical term Deficiencies, Cytochrome-c Oxidase. Deficiencies, Cytochrome-c Oxidase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Deficiencies, Cytochrome-c Oxidase
| Deficiencies, Cytochrome-c Oxidase Medical Condition |
|---|
What's The Definition Of The Medical Condition Deficiencies, Cytochrome-c Oxidase?
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
- Annular Groove ‐ A disorder present in the newborn infant in which constriction…
- Monograph (PT) ‐ In cataloging, any publication that is not a serial. It is usually…
- Associated Fibril-Protein, Scrapie ‐ Protease-resistant core of PrPSC, the abnormal isoform of prion…
- Germ Layers ‐ The three layers of cells comprising the…
- Uroporphyrinogen Synthetase ‐ An enzyme that catalyzes the formation of hydroxymethylbilane…
- Deficiency Disease Hexosaminidase A ‐ An autosomal recessive inherited gangliosidosis characterized…
- Pharmacy Education, Continuing ‐ Educational programs designed to inform graduate pharmacists…
- Organisms, GMO ‐ Organisms whose GENOME has been changed by a GENETIC ENGINEERING…
- Lyase, Chondroitin Sulfate ‐ Enzymes which catalyze the elimination of delta-4,5-D-glucuronate…
- Induced Hypothermia ‐ Abnormally low body temperature intentionally induced in warm-blooded…