A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was made in four sibs at different ages. The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found asso
5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case
β Scribed by E. A. Haan; J. G. Rogers; G. P. Lewis; P. B. Rowe
- Book ID
- 105313577
- Publisher
- Springer
- Year
- 1985
- Tongue
- English
- Weight
- 749 KB
- Volume
- 8
- Category
- Article
- ISSN
- 0141-8955
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The common polymorphic transition 677C>T in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene causes a thermolabile enzyme variant. This variant is associated with moderate hyperhomocysteinemia, a risk factor for vascular disease and thrombophilia. Up to now, it remained unclear if the therm