General anesthesia and methylenetetrahydrofolate reductase deficiency
β Scribed by Hamilton Shay; Robert J. Frumento; Alexandra Bastien
- Book ID
- 106183069
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 103 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0913-8668
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Patients with methylenetetrahydrofolate reductase (MTHFR) deficiency often show psychiatric manifestations. Since a common variant of the MTHFR gene, T677(Ala), responsible for the thermolabile MTHFR with less than 50% specific MTHFR activity, has been reported, we examined whether the T677 allele i
Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who