A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene.
10.14734/kjp.2015.26.4.348
- Author:
Ji Ye AHN
1
;
Min Seon CHOI
;
Jae Hee LEE
;
Sang Kee PARK
Author Information
1. Department of Pediatrics, School of Medicine, Chosun University, Gwangju, Korea. skpark@chosun.ac.kr
- Publication Type:Case Report
- Keywords:
MTHFR gene;
Cerebral infarction;
Homocysteine
- MeSH:
Cerebral Infarction*;
Coenzymes;
Folic Acid;
Homocysteine;
Humans;
Hyperhomocysteinemia;
Infant, Newborn;
Metabolism;
Mothers;
Oxidoreductases;
Pregnancy;
Risk Factors;
Stroke;
Vitamin B 6
- From:Korean Journal of Perinatology
2015;26(4):348-351
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
