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Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency

✍ Scribed by Kevin A. Strauss; D. Holmes Morton; Erik G. Puffenberger; Christine Hendrickson; Donna L. Robinson; Conrad Wagner; Sally P. Stabler; Robert H. Allen; Grazyna Chwatko; Hieronim Jakubowski; Mihai D. Niculescu; S. Harvey Mudd


Book ID
116987980
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
830 KB
Volume
91
Category
Article
ISSN
1096-7192

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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