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)

(Methyl B-12 Prescription)
Type
Supplement
How many have tried
8
Treatment name(s)

(Deplin)
Type
Supplement
How many have tried
7
Treatment name(s)

(FolaPro)
Type
Supplement
How many have tried
6
Treatment name(s)

(Cymbalta)
Type
Prescription Drug
How many have tried
5
Tried for
depressed mood (3) anxious mood (2)
1 more
Treatment name(s)

(Chinese acupuncture and aravedic herbs)
Type
Procedures
How many have tried
3
Tried for
pain (2) anxious mood (1)
Treatment name(s)

(Klonopin)
Type
Prescription Drug
How many have tried
3
Tried for
anxious mood (3)
Treatment name(s)
Type
Supplement
How many have tried
3
Treatment name(s)

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

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

(Nuvigil)
Type
Prescription Drug
How many have tried
2
Tried for
fatigue (2)

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)

(Methyl B-12 Prescription)
Perceived effectiveness
for methylenetetrahydrofolate reductase deficiency (1 evaluation)
Side effects
Total evaluations
1
Treatment name(s)

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

(FolaPro)
Perceived effectiveness
for methylenetetrahydrofolate reductase deficiency (2 evaluations)
Side effects
Total evaluations
2
Treatment name(s)

(Cymbalta)
Perceived effectiveness
for depressed mood (8 evaluations)
Side effects
apathy deadened emotions 13 more
Total evaluations
12
Tried for
depressed mood (3) anxious mood (2)
1 more
Treatment name(s)

(Chinese acupuncture and aravedic herbs)
Perceived effectiveness
for pain (4 evaluations)
Side effects
yeast die-off (Herxheimer reaction)
Total evaluations
5
Tried for
pain (2) anxious mood (1)
Treatment name(s)

(Klonopin)
Perceived effectiveness
for anxious mood (1 evaluation)
Side effects
brain fog fatigue 1 more
Total evaluations
5
Tried for
anxious mood (3)
Treatment name(s)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
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)

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

(Nuvigil)
Perceived effectiveness
No evaluations
Side effects
No evaluations
Total evaluations
0
Tried for
fatigue (2)
  • 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 3
20s 27
30s 54
40s 89
50s 78
60s 36
70+ 8
Age at first symptom
Age at first symptom Proportion # of patients
0-19 years 41
20-29 years 15
30-39 years 19
40-49 years 22
50-59 years 8
60-69 years 2
70+ years 0

Sex

Distribution of sex

88% Female
12% Male

Diagnosis status
Diagnosis status Proportion # of patients
Diagnosed 163
Not Diagnosed 13

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