Grow Jennifer L, Fliman Paola J, Pipe Steven W
Division of Neonatal-Perinatal Medicine, University of Michigan, Ann Arbor, MI, USA.
J Perinatol. 2002 Mar;22(2):175-8. doi: 10.1038/sj.jp.7210615.
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.
5,10-亚甲基四氢叶酸还原酶（MTHFR）的C677T突变预示着223位残基处缬氨酸替代丙氨酸（A223V）。这种MTHFR的热不稳定形式活性降低50%，与高同型半胱氨酸血症相关，并且是成人血栓形成的一个已描述的危险因素。（1-3）此外，它与受影响母亲所生婴儿的出生缺陷以及反复的胎儿丢失有关。（4-6）我们报告了一名出现惊厥的新生儿发生了静脉窦血栓形成。随后发现婴儿和母亲的MTHFR均为纯合C677T等位基因。
