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5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant

✍ Scribed by Megumi Tsuji; Atsushi Takagi; Kiyoko Sameshima; Mizue Iai; Sumimasa Yamashita; Hiroko Shinbo; Noritaka Furuya; Kenji Kurosawa; Hitoshi Osaka


Book ID
113498946
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
375 KB
Volume
33
Category
Article
ISSN
0387-7604

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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