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What is Methylmalonic aciduria -- microcephaly -- cataract?

What is Methylmalonic aciduria -- microcephaly -- cataract?

  • Methylmalonic aciduria -- microcephaly -- cataract: A very rare syndrome characterized mainly by excess methylmalonic acid in the urine, small head and cataracts.

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

Methylmalonic aciduria -- microcephaly -- cataract: Introduction

Types of Methylmalonic aciduria -- microcephaly -- cataract:

Broader types of Methylmalonic aciduria -- microcephaly -- cataract:

What causes Methylmalonic aciduria -- microcephaly -- cataract?

Causes of Methylmalonic aciduria -- microcephaly -- cataract: see causes of Methylmalonic aciduria -- microcephaly -- cataract

What are the symptoms of Methylmalonic aciduria -- microcephaly -- cataract?

Symptoms of Methylmalonic aciduria -- microcephaly -- cataract: see symptoms of Methylmalonic aciduria -- microcephaly -- cataract

Methylmalonic aciduria -- microcephaly -- cataract: Testing

Diagnostic testing: see tests for Methylmalonic aciduria -- microcephaly -- cataract.

Misdiagnosis: see misdiagnosis and Methylmalonic aciduria -- microcephaly -- cataract.

How is it treated?

Doctors and Medical Specialists for Methylmalonic aciduria -- microcephaly -- cataract: Neonatologist, Neurologist ; see also doctors and medical specialists for Methylmalonic aciduria -- microcephaly -- cataract.
Treatments for Methylmalonic aciduria -- microcephaly -- cataract: see treatments for Methylmalonic aciduria -- microcephaly -- cataract

Name and Aliases of Methylmalonic aciduria -- microcephaly -- cataract

Main name of condition: Methylmalonic aciduria -- microcephaly -- cataract

Other names or spellings for Methylmalonic aciduria -- microcephaly -- cataract:

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract

 

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