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What is Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency?

What is Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency?

  • Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidneys as well as the muscles.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency as a "rare disease".
Source - Orphanet

Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: Introduction

Types of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency:

Broader types of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency:

How serious is Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency?

Complications of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: see complications of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency

What causes Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency?

Causes of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: see causes of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency

What are the symptoms of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency?

Symptoms of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: see symptoms of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency

Complications of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: see complications of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency

Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: Testing

Diagnostic testing: see tests for Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency.

Misdiagnosis: see misdiagnosis and Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency.

How is it treated?

Doctors and Medical Specialists for Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: Medical Geneticist, Neonatologist ; see also doctors and medical specialists for Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency.
Treatments for Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: see treatments for Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency

Name and Aliases of Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency

Main name of condition: Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency

Other names or spellings for Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency:

Fatal infantile COX deficiency, Cytochrome C Oxidase deficiency, fatal infantile with cardioencephalomyopathy, cytochrome c oxidase deficiency, fatal infantile

 

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