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 with methylenetetrahydrofolate reductase deficiency

Treatment name(s)
Type
How many have tried
Tried for
Treatment name(s)

(Deplin)
Type
Supplement
How many have tried
5
Treatment name(s)

(Methyl B-12 Prescription)
Type
Supplement
How many have tried
5
Treatment name(s)

(FolaPro)
Type
Supplement
How many have tried
4
Treatment name(s)

(Cymbalta)
Type
Prescription Drug
How many have tried
4
Tried for
depressed mood (3) anxious mood (1)
1 more
Treatment name(s)

(Remeron)
Type
Prescription Drug
How many have tried
3
Tried for
depressed mood (2) anxious mood (1)
Treatment name(s)

(Zoloft)
Type
Prescription Drug
How many have tried
3
Tried for
depressed mood (3)
Treatment name(s)

(Chinese acupuncture and aravedic herbs)
Type
Procedures
How many have tried
2
Tried for
anxious mood (1) pain (1)
Treatment name(s)

(Xanax)
Type
Prescription Drug
How many have tried
2
Tried for
anxious mood (2)
Treatment name(s)

(Symmetrel)
Type
Prescription Drug
How many have tried
2
Tried for
fatigue (2)
Treatment name(s)

(Adderall)
Type
Prescription Drug
How many have tried
2
Tried for
fatigue (2) depressed mood (1)

Data from patients with methylenetetrahydrofolate reductase deficiency, who reported starting treatments within the last 5 years.
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Compare treatments taken by people with methylenetetrahydrofolate reductase deficiency

Treatment name(s)
Perceived effectiveness
Side effects
Total evaluations
Tried for
Treatment name(s)

(Deplin)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Treatment name(s)

(Methyl B-12 Prescription)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Treatment name(s)

(FolaPro)
Perceived effectiveness
for methylenetetrahydrofolate reductase deficiency (1 evaluation)
Side effects
Total evaluations
1
Treatment name(s)

(Cymbalta)
Perceived effectiveness
for depressed mood (9 evaluations)
Side effects
decreased appetite depressed mood 5 more
Total evaluations
9
Tried for
depressed mood (3) anxious mood (1)
1 more
Treatment name(s)

(Remeron)
Perceived effectiveness
for depressed mood (2 evaluations)
Side effects
difficulty with orgasm memory problems
Total evaluations
2
Tried for
depressed mood (2) anxious mood (1)
Treatment name(s)

(Zoloft)
Perceived effectiveness
for depressed mood (5 evaluations)
Side effects
apathy inability to experience pleasure (anhedonia)
Total evaluations
5
Tried for
depressed mood (3)
Treatment name(s)

(Chinese acupuncture and aravedic herbs)
Perceived effectiveness
for anxious mood (1 evaluation)
Side effects
Total evaluations
3
Tried for
anxious mood (1) pain (1)
Treatment name(s)

(Xanax)
Perceived effectiveness
for anxious mood (1 evaluation)
Side effects
blackouts
Total evaluations
1
Tried for
anxious mood (2)
Treatment name(s)

(Symmetrel)
Perceived effectiveness
for fatigue (1 evaluation)
Side effects
orthostatic hypotension
Total evaluations
1
Tried for
fatigue (2)
Treatment name(s)

(Adderall)
Perceived effectiveness
for fatigue (3 evaluations)
Side effects
insomnia irritability
Total evaluations
3
Tried for
fatigue (2) depressed mood (1)
  • Major
  • Moderate
  • Slight
  • None
  • Can't tell
  • Severe
  • Moderate
  • Mild
  • None

Data from patients with methylenetetrahydrofolate reductase deficiency, who reported starting treatments within the last 5 years.
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Who has methylenetetrahydrofolate reductase deficiency on PatientsLikeMe?


Age
Age Proportion # of patients
<20 4
20s 26
30s 57
40s 94
50s 84
60s 43
70+ 9
Age at first symptom
Age at first symptom Proportion # of patients
0-19 years 42
20-29 years 15
30-39 years 19
40-49 years 22
50-59 years 9
60-69 years 2
70+ years 0

Distribution of sex

Sex
Sex Proportion # of patients
Male 37
Female 280

Diagnosis status
Diagnosis status Proportion # of patients
Diagnosed 182
Not Diagnosed 14

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