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Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency

✍ 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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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

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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