title: General anesthesia and methylenetetrahydrofolate reductase deficiency.
abstract: 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.
authors.affiliation: Department of Anesthesiology, Montefiore Medical Center, Albert Einstein College of Medicine, 111 East 210th Street, Bronx, NY 10467, USA.
authors.forename: Hamilton
authors.initials: H
authors.lastname: Shay
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Frumento
authors.forename: Alexandra
authors.initials: A
authors.lastname: Bastien
mesh_terms: D000328:Adult; D000768:Anesthesia, General; D005260:Female; D006801:Humans; D020138:Hyperhomocysteinemia / Q000209:etiology; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency* / Q000235:genetics; D009154:Mutation; D009609:Nitrous Oxide / Q000009:adverse effects
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009609:Nitrous Oxide