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.
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Shay, H., Frumento, R. & Bastien, A. General anesthesia and methylenetetrahydrofolate reductase deficiency. J Anesth 21, 493–496 (2007). https://doi.org/10.1007/s00540-007-0544-8
- Nitrous oxide
- Methylenetetrahydrofolate reductase deficiency