AnnotationMolecular genetics of methylenetetrahydrofolate reductase deficiency
β Scribed by R. Rozen
- Book ID
- 105312799
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 546 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0141-8955
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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
In a 3-year-old mentally retarded girl with homocystinuria due to 5,10methylenetetrahydrofolate reductase deficiency among different therapeutic approaches only treatment with betaine (15-20g/day) resulted in a satisfactory biochemical response. Betaine improved homocysteine remethylation and thus l