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What is Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency?

What is Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency?

  • Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: An inherited organic acid disorder where an enzyme (Methylmalonyl CoA mutase apoenzyme) deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.

Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: Introduction

Types of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency:

Broader types of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency:

How serious is Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency?

Complications of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: see complications of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency

What causes Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency?

Causes of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: see causes of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency

What are the symptoms of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency?

Symptoms of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: see symptoms of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency

Complications of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: see complications of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency

Onset of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: within first year of life

Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: Testing

Diagnostic testing: see tests for Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency.

Misdiagnosis: see misdiagnosis and Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency.

How is it treated?

Doctors and Medical Specialists for Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: Medical Geneticist ; see also doctors and medical specialists for Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency.
Treatments for Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: see treatments for Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency

Name and Aliases of Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency

Main name of condition: Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency

Other names or spellings for Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency:

Methylmalonic acidemia, MCM type, Methylmalonic acaduria, MCM type, Methylmalonyl-Coenzyme A mutase deficiency, MCM Deficiency

Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: Related Conditions

Research the causes of these diseases that are similar to, or related to, Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency:

  • Autosomal recessive metabolic disorder
  • Progressive encepahalopathy
  • Hyperammonemia
 

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