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What is 3-Hydroxyisobutyric aciduria?

What is 3-Hydroxyisobutyric aciduria?

  • 3-Hydroxyisobutyric aciduria: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.

3-Hydroxyisobutyric aciduria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 3-Hydroxyisobutyric aciduria, or a subtype of 3-Hydroxyisobutyric 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 3-Hydroxyisobutyric aciduria as a "rare disease".
Source - Orphanet

3-Hydroxyisobutyric aciduria: Introduction

Types of 3-Hydroxyisobutyric aciduria:

Broader types of 3-Hydroxyisobutyric aciduria:

What causes 3-Hydroxyisobutyric aciduria?

Causes of 3-Hydroxyisobutyric aciduria: see causes of 3-Hydroxyisobutyric aciduria

What are the symptoms of 3-Hydroxyisobutyric aciduria?

Symptoms of 3-Hydroxyisobutyric aciduria: see symptoms of 3-Hydroxyisobutyric aciduria

3-Hydroxyisobutyric aciduria: Testing

Diagnostic testing: see tests for 3-Hydroxyisobutyric aciduria.

Misdiagnosis: see misdiagnosis and 3-Hydroxyisobutyric aciduria.

How is it treated?

Doctors and Medical Specialists for 3-Hydroxyisobutyric aciduria: Medical Geneticist ; see also doctors and medical specialists for 3-Hydroxyisobutyric aciduria.
Treatments for 3-Hydroxyisobutyric aciduria: see treatments for 3-Hydroxyisobutyric aciduria

Name and Aliases of 3-Hydroxyisobutyric aciduria

Main name of condition: 3-Hydroxyisobutyric aciduria

Other names or spellings for 3-Hydroxyisobutyric aciduria:

Disorder of valine metabolism

Disorder of valine metabolism
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

3-Hydroxyisobutyric aciduria: Related Conditions

Research the causes of these diseases that are similar to, or related to, 3-Hydroxyisobutyric aciduria:

 

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