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Cytochrome C Oxidase Deficiency

Cytochrome C Oxidase Deficiency: Introduction

Cytochrome C Oxidase Deficiency: Cytochrome C oxidase deficiency is a rare inherited condition involving insufficient quantities of the cytochromc C oxidase enzyme. This enzyme plays a role in the functioning of the energy producing part of body cells (mitochondria) and its deficiency impairs the energy-producing functions of the cells. The type and severity of symptoms can vary considerably depending on which particular cells in the body are affected and the degree of the enzyme deficiency. In some cases only skeletal muscles are affected whereas in other cases organs such as the heart and brain are involved. In other cases, the whole body may be involved. More detailed information about the symptoms, causes, and treatments of Cytochrome C Oxidase Deficiency is available below.

Symptoms of Cytochrome C Oxidase Deficiency

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Causes of Cytochrome C Oxidase Deficiency

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Misdiagnosis and Cytochrome C Oxidase Deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis)....read more »

Evidence Based Medicine Research for Cytochrome C Oxidase Deficiency

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Definitions of Cytochrome C Oxidase Deficiency:

A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV 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, https://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001) - (Source - Diseases Database)

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More information about Cytochrome C Oxidase Deficiency

  1. Cytochrome C Oxidase Deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
 

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