General anesthesia and methylenetetrahydrofolate reductase deficiency

Hamilton Shay, Robert J. Frumento, Alexandra Bastien

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Methylenetetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive disorder with a spectrum of manifestations including neurological symptoms, premature arteriosclerosis, and venous and arterial thrombosis. Most patients are heterozygous for multiple MTHFR substitutions; small minorities are homozygous for mutations at this locus. Among these mutations, the C677T polymorphism is the most deleterious. Nitrous oxide use in anesthesia leads to significant increases in plasma homocysteine. We present a patient undergoing urgent surgery with a preoperative diagnosis of homozygous MTHFR deficiency.

Original languageEnglish (US)
Pages (from-to)493-496
Number of pages4
JournalJournal of Anesthesia
Issue number4
StatePublished - Nov 1 2007


  • Homocysteine
  • Methylenetetrahydrofolate reductase deficiency
  • Nitrous oxide

ASJC Scopus subject areas

  • Anesthesiology and Pain Medicine


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