5,10-Methylenetetrahydrofolate reductase

This test measures MTHFR, an enzyme critical for processing folate and producing molecules needed for DNA synthesis and methylation. MTHFR enzyme deficiency is a rare inherited metabolic disorder causing severe neurological problems, including intellectual disability, seizures, and movement disorders. Genetic variations (polymorphisms) in the MTHFR gene are common but usually don't cause disease. However, actual enzyme deficiency requires specialized treatment with folinic acid and other supplements. This test is ordered when genetic MTHFR deficiency is suspected based on neurological symptoms or family history.