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What is Methylmalonic acidemia, cobalamin A deficiency?

What is Methylmalonic acidemia, cobalamin A deficiency?

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

Types of Methylmalonic acidemia, cobalamin A deficiency:

Broader types of Methylmalonic acidemia, cobalamin A deficiency:

How serious is Methylmalonic acidemia, cobalamin A deficiency?

Complications of Methylmalonic acidemia, cobalamin A deficiency: see complications of Methylmalonic acidemia, cobalamin A deficiency

What causes Methylmalonic acidemia, cobalamin A deficiency?

Causes of Methylmalonic acidemia, cobalamin A deficiency: see causes of Methylmalonic acidemia, cobalamin A deficiency

What are the symptoms of Methylmalonic acidemia, cobalamin A deficiency?

Symptoms of Methylmalonic acidemia, cobalamin A deficiency: see symptoms of Methylmalonic acidemia, cobalamin A deficiency

Complications of Methylmalonic acidemia, cobalamin A deficiency: see complications of Methylmalonic acidemia, cobalamin A deficiency

Onset of Methylmalonic acidemia, cobalamin A deficiency: within first year of life

Methylmalonic acidemia, cobalamin A deficiency: Testing

Misdiagnosis: see misdiagnosis and Methylmalonic acidemia, cobalamin A deficiency.

How is it treated?

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

Name and Aliases of Methylmalonic acidemia, cobalamin A deficiency

Main name of condition: Methylmalonic acidemia, cobalamin A deficiency

Other names or spellings for Methylmalonic acidemia, cobalamin A deficiency:

Methylmalonic acidemia, cblA type, Methylmalonic aciduria, cblA type, Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type, MMA cbl A type

 

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