Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase.

@article{Kang1988IntermediateHA,
  title={Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase.},
  author={Seok Seon Kang and Jun Zhou and Paul W. K. Wong and J Kowalisyn and G Strokosch},
  journal={American journal of human genetics},
  year={1988},
  volume={43 4},
  pages={414-21}
}
A "newly detected" variant of methylenetetrahydrofolate (MTHF) reductase (E.C.1.1.1.68) deficiency associated with an 8-15-fold increase in plasma total homocysteine was discovered in two unrelated patients who had subnormal serum folate. However, the homocysteinemia was corrected by oral folic acid supplement. When MTHF reductase activities in lymphocyte extracts before and after heat treatment at 46 C for 5 min were compared, there was a consistent difference in heat stability between the… CONTINUE READING

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