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What is Methylmalonic acidemia, methylmalonyl CoA racemase deficiency?

What is Methylmalonic acidemia, methylmalonyl CoA racemase deficiency?

  • Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: An inherited organic acid disorder where an enzyme (methylmalonyl CoA racemase) 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 racemase deficiency: Introduction

Types of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency:

Broader types of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency:

How serious is Methylmalonic acidemia, methylmalonyl CoA racemase deficiency?

Complications of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: see complications of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency

What causes Methylmalonic acidemia, methylmalonyl CoA racemase deficiency?

Causes of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: see causes of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency

What are the symptoms of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency?

Symptoms of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: see symptoms of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency

Complications of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: see complications of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency

Onset of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: within first year of life

Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: Testing

Diagnostic testing: see tests for Methylmalonic acidemia, methylmalonyl CoA racemase deficiency.

Misdiagnosis: see misdiagnosis and Methylmalonic acidemia, methylmalonyl CoA racemase deficiency.

How is it treated?

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

Name of Methylmalonic acidemia, methylmalonyl CoA racemase deficiency

Main name of condition: Methylmalonic acidemia, methylmalonyl CoA racemase deficiency

 

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