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KMID : 0361720150260040348
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Korean Journal of perinatology
2015 Volume.26 No. 4 p.348 ~ p.351
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A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene
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안지예:Ahn Ji-Ye
최민선:Choi Min-Seon/이재희:Lee Jae-Hee/박상기:Park Sang-Kee
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Abstract
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C677T mutation in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia in vivo and is known to be one of the causes of perinatal ischemic stroke. As MTHFR plays a role in the metabolism of homocysteine, C677T mutation may account for reduced enzymatic activity resulting in hyperhomocysteinemia. This may be prevented by introducing activity-enhancing coenzymes such as folic acid, vitamin B6, and B12. Though C677T mutation is known as a significant risk factor for cerebral infarction, reported cases of cerebral infarction among affected neonates are scarce. This report describes a case of a neonate homozygous for C677T mutation who had a perinatal ischemic stroke, born in a mother whose folic acid and nutritional consumption had been reduced during pregnancy.
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KEYWORD
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MTHFR gene, Cerebral infarction, Homocysteine
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