Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine. Severe MTHFR deficiency results in marked hyperhomocysteinemia and homocystinuria. Patients display developmental delay and a variety of neurological a
β¦ LIBER β¦
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency
β Scribed by Kluijtmans, Leo AJ; Wendel, Udo; Stevens, Erik MB; van den Heuvel, Lambert PWJ; Trijbels, Frans JM; Blom, Henk J
- Book ID
- 110024692
- Publisher
- Nature Publishing Group
- Year
- 1998
- Tongue
- English
- Weight
- 134 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1018-4813
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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