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What is Trihydroxycholestanoylcoa oxidase isolated deficiency?

What is Trihydroxycholestanoylcoa oxidase isolated deficiency?

  • Trihydroxycholestanoylcoa oxidase isolated deficiency: A rare metabolic disorder where an enzyme (Trihydroxycholestanoyl-CoA oxidase) deficiency disturbs the formation of bile acids.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Trihydroxycholestanoylcoa oxidase isolated deficiency as a "rare disease".
Source - Orphanet

Trihydroxycholestanoylcoa oxidase isolated deficiency: Introduction

Types of Trihydroxycholestanoylcoa oxidase isolated deficiency:

Broader types of Trihydroxycholestanoylcoa oxidase isolated deficiency:

What causes Trihydroxycholestanoylcoa oxidase isolated deficiency?

Causes of Trihydroxycholestanoylcoa oxidase isolated deficiency: see causes of Trihydroxycholestanoylcoa oxidase isolated deficiency

What are the symptoms of Trihydroxycholestanoylcoa oxidase isolated deficiency?

Symptoms of Trihydroxycholestanoylcoa oxidase isolated deficiency: see symptoms of Trihydroxycholestanoylcoa oxidase isolated deficiency

Trihydroxycholestanoylcoa oxidase isolated deficiency: Testing

Diagnostic testing: see tests for Trihydroxycholestanoylcoa oxidase isolated deficiency.

Misdiagnosis: see misdiagnosis and Trihydroxycholestanoylcoa oxidase isolated deficiency.

How is it treated?

Doctors and Medical Specialists for Trihydroxycholestanoylcoa oxidase isolated deficiency: Medical Geneticist ; see also doctors and medical specialists for Trihydroxycholestanoylcoa oxidase isolated deficiency.
Treatments for Trihydroxycholestanoylcoa oxidase isolated deficiency: see treatments for Trihydroxycholestanoylcoa oxidase isolated deficiency

Name and Aliases of Trihydroxycholestanoylcoa oxidase isolated deficiency

Main name of condition: Trihydroxycholestanoylcoa oxidase isolated deficiency

Other names or spellings for Trihydroxycholestanoylcoa oxidase isolated deficiency:

thca-CoA oxicase isolated deficiency

 

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