AI Article Synopsis
- The C677T mutation in the MTHFR gene leads to decreased enzyme activity, which can cause health issues like elevated homocysteine levels and increased risk of blood clots in adults.
- This mutation has been connected to birth defects and recurrent miscarriages in mothers carrying the mutation.
- A case is reported involving a newborn with seizures and sinovenous thrombosis, revealing that both the infant and the mother had homozygous C677T alleles for MTHFR.
Article Abstract
The C677T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) predicts substitution of valine for alanine at residue 223 (A223V). This thermolabile form of MTHFR has 50% reduced activity, has been associated with hyperhomocystinemia, and is a described risk factor for thrombosis in adults.(1-3) In addition, it has been associated with birth defects in the infants of affected mothers and with recurrent fetal losses.(4-6) We report the occurrence of sinovenous thrombosis in a newborn infant who presented with seizures. Both infant and mother were subsequently identified as having homozygous C677T alleles for MTHFR.
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| http://dx.doi.org/10.1038/sj.jp.7210615 | DOI Listing |
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