Methylenetetrahydrofolate reductase deficiency

What is methylenetetrahydrofolate reductase deficiency?

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that is encoded by the MTHFR gene. Mutations in this gene are associated with MTHFR deficiency which may result in intellectual disability, psychosis, weakness, ataxia, spasticity and homocystinuria due to elevated blood levels of homocysteine.

How do members experience methylenetetrahydrofolate reductase deficiency?

Top 5 symptoms reported by people with methylenetetrahydrofolate reductase deficiency*

*Reports may be affected by other conditions and/or medication side effects. We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition.

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Top treatments taken by people for methylenetetrahydrofolate reductase deficiency*

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Who has methylenetetrahydrofolate reductase deficiency on PatientsLikeMe?

Age

Age Proportion # of patients
<20 3
20s 14
30s 69
40s 91
50s 120
60s 78
70+ 37

Distribution of sex

Sex

Sex Proportion # of patients
Male 54
Female 354
Learn more about our community’s experience with methylenetetrahydrofolate reductase deficiency.

Talk to people with methylenetetrahydrofolate reductase deficiency

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435

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Endocrine, Metabolism and Nutrition,Heart, Blood, and Circulatory,Neurological and Brain

Learn from others like you living with methylenetetrahydrofolate reductase deficiency.
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