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Diseases » Malonic aciduria » Summary

What is Malonic aciduria?

What is Malonic aciduria?

  • Malonic aciduria: A very rare genetic disorder where a deficiency of a particular enzyme (malonyl-CoA decarboxylase) impairs the body's ability to convert fatty acids into energy that can be used by muscles such as the heart muscle. Fatty acids also accumulate in the body as they are not metabolized.

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

Malonic aciduria: Introduction

Types of Malonic aciduria:

Broader types of Malonic aciduria:

How many people get Malonic aciduria?

Prevalance of Malonic aciduria: less than 20 cases of malonic aciduria have been reported, Genetics Home Reference website
Prevalance Rate of Malonic aciduria: approx 1 in 13,600,000 or 0.00% or 20 people in USA [about data]

How serious is Malonic aciduria?

Complications of Malonic aciduria: see complications of Malonic aciduria

What causes Malonic aciduria?

Causes of Malonic aciduria: see causes of Malonic aciduria

What are the symptoms of Malonic aciduria?

Symptoms of Malonic aciduria: see symptoms of Malonic aciduria

Complications of Malonic aciduria: see complications of Malonic aciduria

Onset of Malonic aciduria: childhood

Can anyone else get Malonic aciduria?

More information: see contagiousness of Malonic aciduria
Inheritance: see inheritance of Malonic aciduria

Malonic aciduria: Testing

Diagnostic testing: see tests for Malonic aciduria.

Misdiagnosis: see misdiagnosis and Malonic aciduria.

How is it treated?

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

Name and Aliases of Malonic aciduria

Main name of condition: Malonic aciduria

Other names or spellings for Malonic aciduria:

malonyl-coenzyme A decarboxylase deficiency, malonyl-CoA decarboxylase deficiency, MCD deficiency

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

Malonic aciduria: Related Conditions

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


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