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What is Methylmalonic acidemia, Cobalamin B deficiency?

What is Methylmalonic acidemia, Cobalamin B deficiency?

  • Methylmalonic acidemia, Cobalamin B deficiency: An inherited organic acid disorder where an enzyme deficiency (Cobalamin B 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, Cobalamin B deficiency: Introduction

Types of Methylmalonic acidemia, Cobalamin B deficiency:

Broader types of Methylmalonic acidemia, Cobalamin B deficiency:

How serious is Methylmalonic acidemia, Cobalamin B deficiency?

Complications of Methylmalonic acidemia, Cobalamin B deficiency: see complications of Methylmalonic acidemia, Cobalamin B deficiency

What causes Methylmalonic acidemia, Cobalamin B deficiency?

Causes of Methylmalonic acidemia, Cobalamin B deficiency: see causes of Methylmalonic acidemia, Cobalamin B deficiency

What are the symptoms of Methylmalonic acidemia, Cobalamin B deficiency?

Symptoms of Methylmalonic acidemia, Cobalamin B deficiency: see symptoms of Methylmalonic acidemia, Cobalamin B deficiency

Complications of Methylmalonic acidemia, Cobalamin B deficiency: see complications of Methylmalonic acidemia, Cobalamin B deficiency

Onset of Methylmalonic acidemia, Cobalamin B deficiency: within first year of life

Methylmalonic acidemia, Cobalamin B deficiency: Testing

Misdiagnosis: see misdiagnosis and Methylmalonic acidemia, Cobalamin B deficiency.

How is it treated?

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

Name and Aliases of Methylmalonic acidemia, Cobalamin B deficiency

Main name of condition: Methylmalonic acidemia, Cobalamin B deficiency

Other names or spellings for Methylmalonic acidemia, Cobalamin B deficiency:

Methylmalonic acidemia, cblB type, Methylmalonic aciduria, cblB type

 

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