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What is Methylene tetrahydrofolate reductase deficiency?

What is Methylene tetrahydrofolate reductase deficiency?

  • Methylene tetrahydrofolate reductase deficiency: A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.

Methylene tetrahydrofolate reductase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Methylene tetrahydrofolate reductase deficiency, or a subtype of Methylene tetrahydrofolate reductase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Methylene tetrahydrofolate reductase deficiency as a "rare disease".
Source - Orphanet

Methylene tetrahydrofolate reductase deficiency: Introduction

Types of Methylene tetrahydrofolate reductase deficiency:

Broader types of Methylene tetrahydrofolate reductase deficiency:

Who gets Methylene tetrahydrofolate reductase deficiency?

Gender Ratio for Methylene tetrahydrofolate reductase deficiency: female predominance

How serious is Methylene tetrahydrofolate reductase deficiency?

Complications of Methylene tetrahydrofolate reductase deficiency: see complications of Methylene tetrahydrofolate reductase deficiency

What causes Methylene tetrahydrofolate reductase deficiency?

Causes of Methylene tetrahydrofolate reductase deficiency: see causes of Methylene tetrahydrofolate reductase deficiency

What are the symptoms of Methylene tetrahydrofolate reductase deficiency?

Symptoms of Methylene tetrahydrofolate reductase deficiency: see symptoms of Methylene tetrahydrofolate reductase deficiency

Complications of Methylene tetrahydrofolate reductase deficiency: see complications of Methylene tetrahydrofolate reductase deficiency

Methylene tetrahydrofolate reductase deficiency: Testing

Diagnostic testing: see tests for Methylene tetrahydrofolate reductase deficiency.

Misdiagnosis: see misdiagnosis and Methylene tetrahydrofolate reductase deficiency.

How is it treated?

Doctors and Medical Specialists for Methylene tetrahydrofolate reductase deficiency: Medical Geneticist ; see also doctors and medical specialists for Methylene tetrahydrofolate reductase deficiency.
Treatments for Methylene tetrahydrofolate reductase deficiency: see treatments for Methylene tetrahydrofolate reductase deficiency

Name and Aliases of Methylene tetrahydrofolate reductase deficiency

Main name of condition: Methylene tetrahydrofolate reductase deficiency

Other names or spellings for Methylene tetrahydrofolate reductase deficiency:

Homocystinuria due to methylenetetrahydrofolate reductase deficiency, Mudd-Shih syndrome, MTHFR deficiency, Homocystinuria due to defect in methylation, MTHFR deficiency, Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity

5 10-methylenetetrahydrofolate reductase deficiency, MTHFR deficiency Source - Diseases Database

Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity, MTHFR deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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