Methylenetetrahydrofolate Reductase Deficiency: A Case Report

Area of Science:

• Anesthesiology
• Genetics
• Internal Medicine

Background:

• Methylenetetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive disorder causing hyperhomocysteinemia.
• Elevated homocysteine is linked to thrombosis, atherosclerosis, pregnancy loss, and neurological symptoms.

Observation:

• Anesthetic management must mitigate thrombosis risk and homocysteine elevation in MTHFR patients.
• Thrombosis prevention strategies include compression, anticoagulation, ambulation, and hydration.
• Nitrous oxide inhibits methionine synthase, increasing homocysteine; it should be avoided.

Findings:

• Propofol and sevoflurane are safe anesthetic agents for MTHFR deficiency.
• Intravenous vitamin B12 may reduce homocysteine but is not widely available perioperatively.

Implications:

• Safe anesthetic protocols are crucial for patients with MTHFR deficiency.
• Understanding MTHFR's impact on anesthetic care improves patient outcomes.
• Further research into perioperative homocysteine management is warranted.