General anesthesia and methylenetetrahydrofolate reductase deficiency
| Autor: | Alexandra Bastien, Robert J. Frumento, Hamilton Shay |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Adult
medicine.medical_specialty Homocysteine Methylenetetrahydrofolate reductase deficiency Premature arteriosclerosis Hyperhomocysteinemia Nitrous Oxide Locus (genetics) Anesthesia General chemistry.chemical_compound Anesthesiology Humans Medicine Methylenetetrahydrofolate Reductase (NADPH2) biology business.industry medicine.disease Thrombosis digestive system diseases Anesthesiology and Pain Medicine chemistry Anesthesia Methylenetetrahydrofolate reductase Mutation Plasma homocysteine biology.protein Female business |
| Zdroj: | Journal of Anesthesia. 21:493-496 |
| ISSN: | 1438-8359 0913-8668 |
| DOI: | 10.1007/s00540-007-0544-8 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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