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What is Homocystinuria due to defect in methylation cbl e?

What is Homocystinuria due to defect in methylation cbl e?

  • Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.

Homocystinuria due to defect in methylation cbl e: Introduction

Types of Homocystinuria due to defect in methylation cbl e:

Broader types of Homocystinuria due to defect in methylation cbl e:

How serious is Homocystinuria due to defect in methylation cbl e?

Prognosis of Homocystinuria due to defect in methylation cbl e: early treatment is necessary to prevent permanent neurological damage
Complications of Homocystinuria due to defect in methylation cbl e: see complications of Homocystinuria due to defect in methylation cbl e

What causes Homocystinuria due to defect in methylation cbl e?

Causes of Homocystinuria due to defect in methylation cbl e: see causes of Homocystinuria due to defect in methylation cbl e

What are the symptoms of Homocystinuria due to defect in methylation cbl e?

Symptoms of Homocystinuria due to defect in methylation cbl e: see symptoms of Homocystinuria due to defect in methylation cbl e

Complications of Homocystinuria due to defect in methylation cbl e: see complications of Homocystinuria due to defect in methylation cbl e

Homocystinuria due to defect in methylation cbl e: Testing

Diagnostic testing: see tests for Homocystinuria due to defect in methylation cbl e.

Misdiagnosis: see misdiagnosis and Homocystinuria due to defect in methylation cbl e.

How is it treated?

Doctors and Medical Specialists for Homocystinuria due to defect in methylation cbl e: Medical Geneticist ; see also doctors and medical specialists for Homocystinuria due to defect in methylation cbl e.
Treatments for Homocystinuria due to defect in methylation cbl e: see treatments for Homocystinuria due to defect in methylation cbl e

Name and Aliases of Homocystinuria due to defect in methylation cbl e

Main name of condition: Homocystinuria due to defect in methylation cbl e

Other names or spellings for Homocystinuria due to defect in methylation cbl e:

vitamin B12-responsibe homocystinuria, cblE type, methylcobalamin deficiency, cblE type

 

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