Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.

@article{Forges2010LifethreateningMR,
  title={Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.},
  author={Thierry Forges and C{\'e}line Ch{\'e}ry and Sandra Audonnet and François Feillet and Jean-Louis Gu{\'e}ant},
  journal={Molecular genetics and metabolism},
  year={2010},
  volume={100 2},
  pages={143-8}
}
Methylenetetrahydrofolate reductase (MTHFR) is a key enzymatic component of the folate cycle, converting 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate, the methyl donor for remethylation of homocysteine into methionine. Severe MTHFR deficiency is a rare recessive disease leading to major hyperhomocysteinemia, homocystinuria, and progressive neurological distress within the two first decades of life. More than 50 mutations have been reported so far in affected patients but only a… CONTINUE READING
10 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 10 extracted citations

Similar Papers

Loading similar papers…