Genetic defects as important factors for moderate hyperhomocysteinemia.

  title={Genetic defects as important factors for moderate hyperhomocysteinemia.},
  author={Juergen Geisel and I Zimbelmann and Heike Schorr and Jean Pierre Knapp and Marion Bodis and Ulrich Huebner and Wolfgang Herrmann},
  journal={Clinical chemistry and laboratory medicine},
  volume={39 8},
The genes for the enzymes methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MS), methionine synthase reductase (MSR) and cytathionine-beta-synthase (CBS) play an important role in homocysteine metabolism. Rare mutations in these genes cause severe hyperhomocysteinemia and clinical symptoms. Growing interest has focused on common mutations with moderate effects on homocysteine levels. We studied 280 subjects of different age groups for the following mutations: MTHFR677C-->T and… CONTINUE READING


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