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
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 | Proportion | # of patients |
|---|---|---|
| <20 | 0 | |
| 20s | 10 | |
| 30s | 26 | |
| 40s | 32 | |
| 50s | 27 | |
| 60s | 32 | |
| 70+ | 71 |
| 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 | Proportion | # of patients |
|---|---|---|
| Male | 45 | |
| Female | 329 |
| Diagnosis status | Proportion | # of patients |
|---|---|---|
| Diagnosed | 195 | |
| Not Diagnosed | 14 |