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Diseases » Fumaric aciduria » Summary

What is Fumaric aciduria?

What is Fumaric aciduria?

  • Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine.

Fumaric aciduria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Fumaric aciduria, or a subtype of Fumaric 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 Fumaric aciduria as a "rare disease".
Source - Orphanet

Fumaric aciduria: Introduction

Types of Fumaric aciduria:

Broader types of Fumaric aciduria:

How serious is Fumaric aciduria?

Complications of Fumaric aciduria: see complications of Fumaric aciduria

What causes Fumaric aciduria?

Causes of Fumaric aciduria: see causes of Fumaric aciduria

What are the symptoms of Fumaric aciduria?

Symptoms of Fumaric aciduria: see symptoms of Fumaric aciduria

Complications of Fumaric aciduria: see complications of Fumaric aciduria

Fumaric aciduria: Testing

Diagnostic testing: see tests for Fumaric aciduria.

Misdiagnosis: see misdiagnosis and Fumaric aciduria.

How is it treated?

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

Name and Aliases of Fumaric aciduria

Main name of condition: Fumaric aciduria

Other names or spellings for Fumaric aciduria:

Fumarase deficiency

Fumarase deficiency, Fumarate hydratase deficiency Source - Diseases Database

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

Fumaric aciduria: Related Conditions

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


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