Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor.

@article{Molloy1998LowBF,
  title={Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor.},
  author={Anne M. Molloy and James L. Mills and Peadar N. Kirke and Dr. Mary T. Ramsbottom and Joseph M. McPartlin and Helen Burke and Mary R Conley and Alexander S. Whitehead and Donald George Weir and John M. Scott},
  journal={American journal of medical genetics},
  year={1998},
  volume={78 2},
  pages={155-9}
}
Thermolabile 5,10-methylenetetrahydrofolate reductase (MTHFR) is the first folate-related variant to be associated with an increased risk of neural tube defects (NTDs). The variant causes high plasma homocysteine levels and reduced red cell folate (RCF) levels, both of which have also been linked to an increased risk of NTDs. We examined the relationship between folate status and presence of the common mutation MTHFR C677T in 82 NTD-affected and 260 control mothers. Homozygosity for the TT… CONTINUE READING

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