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Diseases » Mevalonic aciduria » Summary
 

What is Mevalonic aciduria?

What is Mevalonic aciduria?

  • Mevalonic aciduria: A rare disorder of amino acid metabolism characterized by a defect in the enzyme mevalonate kinase.

Mevalonic aciduria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Mevalonic aciduria, or a subtype of Mevalonic aciduria, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

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

Mevalonic aciduria: Introduction

Types of Mevalonic aciduria:

Broader types of Mevalonic aciduria:

How serious is Mevalonic aciduria?

Complications of Mevalonic aciduria: see complications of Mevalonic aciduria

What causes Mevalonic aciduria?

Causes of Mevalonic aciduria: see causes of Mevalonic aciduria

What are the symptoms of Mevalonic aciduria?

Symptoms of Mevalonic aciduria: see symptoms of Mevalonic aciduria

Complications of Mevalonic aciduria: see complications of Mevalonic aciduria

Mevalonic aciduria: Testing

Diagnostic testing: see tests for Mevalonic aciduria.

Misdiagnosis: see misdiagnosis and Mevalonic aciduria.

How is it treated?

Doctors and Medical Specialists for Mevalonic aciduria: Medical Geneticist ; see also doctors and medical specialists for Mevalonic aciduria.
Treatments for Mevalonic aciduria: see treatments for Mevalonic aciduria
Research for Mevalonic aciduria: see research for Mevalonic aciduria

Name and Aliases of Mevalonic aciduria

Main name of condition: Mevalonic aciduria

Other names or spellings for Mevalonic aciduria:

Mevalonate kinase deficiency

Mevalonate kinase deficiency Source - Diseases Database

Mevalonate kinase deficiency, Mevalonate kinase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Mevalonic aciduria: Related Conditions

Research the causes of these diseases that are similar to, or related to, Mevalonic aciduria:

 

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