Methylenetetrahydrofolate reductase deficiency

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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.

Common symptoms reported by people with methylenetetrahydrofolate reductase deficiency

Common symptoms
How bad it is
What people are taking for it

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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Treatments taken by people for methylenetetrahydrofolate reductase deficiency

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Compare treatments taken by people with methylenetetrahydrofolate reductase deficiency

Let’s build this page together! When you share what it’s like to have methylenetetrahydrofolate reductase deficiency through your profile, those stories and data appear here too.

Got a question about living with methylenetetrahydrofolate reductase deficiency? Members in the forum might have the answers.

Who has methylenetetrahydrofolate reductase deficiency on PatientsLikeMe?

  • 0 new patients joined this month
  • 163 say MTHFR deficiency is their primary condition

Age
Age Proportion # of patients
<20 0
20s 10
30s 26
40s 32
50s 27
60s 32
70+ 71
Age at first symptom
Age at first symptom Proportion # of patients
0-19 years 8
20-29 years 7
30-39 years 7
40-49 years 10
50-59 years 4
60-69 years 5
70+ years 5

Distribution of sex

Sex
Sex Proportion # of patients
Male 45
Female 329

Diagnosis status
Diagnosis status Proportion # of patients
Diagnosed 195
Not Diagnosed 14

These charts show data from MTHFR deficiency patients who have completed their condition history
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