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What is Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency?

What is Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency?

  • Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency as a "rare disease".
Source - Orphanet

Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Introduction

Types of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency:

Broader types of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency:

How serious is Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency?

Complications of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: see complications of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

What causes Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency?

Causes of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: see causes of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

What are the symptoms of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency?

Symptoms of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: see symptoms of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Complications of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: see complications of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Onset of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal or infancy

Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Testing

Misdiagnosis: see misdiagnosis and Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

How is it treated?

Treatments for Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: see treatments for Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Name of Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Main name of condition: Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

 

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