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.

Top treatments taken by people for methylenetetrahydrofolate reductase deficiency*

Who has methylenetetrahydrofolate reductase deficiency on PatientsLikeMe?

Age

Age Proportion # of patients
<20 4
20s 14
30s 68
40s 91
50s 121
60s 79
70+ 37

Distribution of sex

Sex

Sex Proportion # of patients
Male 54
Female 356

We’re all in this for good.

By sharing your stories and data, you will:
  • help each other live better and uncover the best ways to manage your health today
  • help researchers shorten the path to new treatments tomorrow

How much good can your data do? A whole lot, as co-founder Jamie Heywood explains in this video.

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.
Last updated:



Treatments taken by people for 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.


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?

  • 1 new patients joined this month
  • 173 say MTHFR deficiency is their primary condition

Age
Age Proportion # of patients
<20 4
20s 14
30s 68
40s 91
50s 121
60s 79
70+ 37
Age at first symptom
Age at first symptom Proportion # of patients
0-19 years 42
20-29 years 21
30-39 years 21
40-49 years 23
50-59 years 10
60-69 years 2
70+ years 0

Distribution of sex

Sex
Sex Proportion # of patients
Male 54
Female 356

Diagnosis status
Diagnosis status Proportion # of patients
Diagnosed 198
Not Diagnosed 14

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