Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.

@article{Schwahn2004BetaineRO,
  title={Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.},
  author={Bernd C. Schwahn and Maurice D. Laryea and Zhoutao Chen and Stepan Melnyk and Igor P Pogribny and Timothy A. Garrow and S. Jill James and Rima Rozen},
  journal={The Biochemical journal},
  year={2004},
  volume={382 Pt 3},
  pages={831-40}
}
MTHFR (methylenetetrahydrofolate reductase) catalyses the synthesis of 5-methyltetrahydrofolate, the folate derivative utilized in homocysteine remethylation to methionine. A severe deficiency of MTHFR results in hyperhomocysteinaemia and homocystinuria. Betaine supplementation has proven effective in ameliorating the biochemical abnormalities and the clinical course in patients with this deficiency. Mice with a complete knockout of MTHFR serve as a good animal model for homocystinuria; early… CONTINUE READING

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