MTHFR
Metabolic System · Vitamin, Cofactor & One-Carbon Metabolism
Do common MTHFR variants mean I must take methylfolate?
MTHFR helps convert folate into a form used in homocysteine metabolism. Common variants do not by themselves require methylfolate, and they should not be confused with rare severe MTHFR deficiency.
- Common Gene Name
- methylenetetrahydrofolate reductase
- NCBI Gene ID
- 4524
- Chromosome
- 1
Clinical Evidence Status
Established disease relationshipTumor or drug-label biomarker context
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (7 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| homocystinuria due to methylene tetrahydrofolate reductase deficiency | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2019-06-18 |
| Homocystinuria | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2016-04 | |
| Spina bifida | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2016-04 | |
| Anencephaly | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2016-04 | |
| Age-related hearing loss | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2016-04 | |
| Alopecia areata | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2016-04 | |
| Betaine | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Inborn Errors of Metabolism | View source |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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