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What is Aconitase deficiency?

What is Aconitase deficiency?

  • Aconitase deficiency: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.

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

Aconitase deficiency: Introduction

Types of Aconitase deficiency:

Broader types of Aconitase deficiency:

How serious is Aconitase deficiency?

Prognosis of Aconitase deficiency: The prognosis is variably and depends on whether the patient engages in strenuous physical exertion.
Complications of Aconitase deficiency: see complications of Aconitase deficiency

What causes Aconitase deficiency?

Causes of Aconitase deficiency: see causes of Aconitase deficiency
Cause of Aconitase deficiency: The condition is inherited in an autosomal recessive manner.

What are the symptoms of Aconitase deficiency?

Symptoms of Aconitase deficiency: see symptoms of Aconitase deficiency

Complications of Aconitase deficiency: see complications of Aconitase deficiency

Onset of Aconitase deficiency: Exercise intolerance tends to start during childhood.

Aconitase deficiency: Testing

Misdiagnosis: see misdiagnosis and Aconitase deficiency.

How is it treated?

Treatments for Aconitase deficiency: see treatments for Aconitase deficiency

Name of Aconitase deficiency

Main name of condition: Aconitase deficiency

 

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