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What is Methylmalonic acidemia -- homocystinuria?

What is Methylmalonic acidemia -- homocystinuria?

  • Methylmalonic acidemia -- homocystinuria: A rare inborn error of metabolism which results in impaired vitamin B12 metabolism. There are a number of forms of this condition with variable severity.

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

Methylmalonic acidemia -- homocystinuria: Introduction

Types of Methylmalonic acidemia -- homocystinuria:

Broader types of Methylmalonic acidemia -- homocystinuria:

How serious is Methylmalonic acidemia -- homocystinuria?

Complications of Methylmalonic acidemia -- homocystinuria: see complications of Methylmalonic acidemia -- homocystinuria

What causes Methylmalonic acidemia -- homocystinuria?

Causes of Methylmalonic acidemia -- homocystinuria: see causes of Methylmalonic acidemia -- homocystinuria

What are the symptoms of Methylmalonic acidemia -- homocystinuria?

Symptoms of Methylmalonic acidemia -- homocystinuria: see symptoms of Methylmalonic acidemia -- homocystinuria

Complications of Methylmalonic acidemia -- homocystinuria: see complications of Methylmalonic acidemia -- homocystinuria

Onset of Methylmalonic acidemia -- homocystinuria: usually early in life

Methylmalonic acidemia -- homocystinuria: Testing

Diagnostic testing: see tests for Methylmalonic acidemia -- homocystinuria.

Misdiagnosis: see misdiagnosis and Methylmalonic acidemia -- homocystinuria.

How is it treated?

Doctors and Medical Specialists for Methylmalonic acidemia -- homocystinuria: Medical Geneticist ; see also doctors and medical specialists for Methylmalonic acidemia -- homocystinuria.
Treatments for Methylmalonic acidemia -- homocystinuria: see treatments for Methylmalonic acidemia -- homocystinuria

Name and Aliases of Methylmalonic acidemia -- homocystinuria

Main name of condition: Methylmalonic acidemia -- homocystinuria

Other names or spellings for Methylmalonic acidemia -- homocystinuria:

Methylmalonic aciduria [homocystinuria], Methylmalonic acidemia with homocystinuria

 

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