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What is Methylmalonic aciduria -- homocystinuria?

What is Methylmalonic aciduria -- homocystinuria?

  • Methylmalonic aciduria -- homocystinuria: A rare group of disorders characterized by methylmalonic aciduria and homocystinuria resulting from abnormal metabolism of vitamin B12 by the liver. There are various subtypes of the condition with varying ages of onset and severity of symptoms.

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

Methylmalonic aciduria -- homocystinuria: Introduction

Types of Methylmalonic aciduria -- homocystinuria:

Broader types of Methylmalonic aciduria -- homocystinuria:

How serious is Methylmalonic aciduria -- homocystinuria?

Prognosis of Methylmalonic aciduria -- homocystinuria: Some patients improve with treatment whereas others die despite treatment. Some will have permanent mental retardation or other problems.
Complications of Methylmalonic aciduria -- homocystinuria: see complications of Methylmalonic aciduria -- homocystinuria

What causes Methylmalonic aciduria -- homocystinuria?

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

What are the symptoms of Methylmalonic aciduria -- homocystinuria?

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

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

Methylmalonic aciduria -- homocystinuria: Testing

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

Misdiagnosis: see misdiagnosis and Methylmalonic aciduria -- homocystinuria.

How is it treated?

Treatments for Methylmalonic aciduria -- homocystinuria: see treatments for Methylmalonic aciduria -- homocystinuria

Name and Aliases of Methylmalonic aciduria -- homocystinuria

Main name of condition: Methylmalonic aciduria -- homocystinuria

Other names or spellings for Methylmalonic aciduria -- homocystinuria:

MMA-HC

 

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