A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene / 대한주산의학회잡지
Korean Journal of Perinatology
; : 348-351, 2015.
Article
en Ko
| WPRIM
| ID: wpr-9605
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Oxidorreductasas
/
Infarto Cerebral
/
Factores de Riesgo
/
Coenzimas
/
Hiperhomocisteinemia
/
Accidente Cerebrovascular
/
Vitamina B 6
/
Ácido Fólico
/
Homocisteína
/
Metabolismo
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Humans
/
Newborn
/
Pregnancy
Idioma:
Ko
Revista:
Korean Journal of Perinatology
Año:
2015
Tipo del documento:
Article