MTHFR gene mutation

Clinical significance

• defects in MTHFR are the cause of
  • methylenetetrahydrofolate reductase deficiency
  • susceptibility to ischemic stroke
  • susceptibility to folate-sensitive neural tube defects

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• 5,10-methylenetetrahydrofolate reductase (MTHFR)