- Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity.
- Reduced activity can lead to elevated levels of homocysteine (a.k.a. hyperhomocysteinemia), especially when folate levels are low.
- High homocysteine (>13umol/L) may double the risk of developing illness or complications.
- MTHFR genotyping can provide information about potential causes of elevated homocysteine and approaches for addressing it.
- Based on MTHFR and homocysteine results, physicians can develop dietary and medical recomendations - increased intake of folate alone or in combination with vitamins B6 and B12 are recommended.
- Based on results, recommendations for methotrexate dosage can be adjusted.
Risks Associated with MTHFR Variants/High Homocysteine:
- Cardiovascular Disease
- Cerebral Vascular Disease (Stroke)
- Venous and Arterial Thrombosis
- Methotrexate Toxicity for Cancer Therapy
Who Should be Tested?
- Those with high homocysteine levels.
- Those who have a familial history of cardiovascular disease, stroke or thrombosis.
- Those who are candidates for long-term methotrexate therapy.
