A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 348-351, 2015.
Artigo
em Coreano
| WPRIM
| ID: wpr-9605
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oxirredutases
/
Infarto Cerebral
/
Fatores de Risco
/
Coenzimas
/
Hiper-Homocisteinemia
/
Acidente Vascular Cerebral
/
Vitamina B 6
/
Ácido Fólico
/
Homocisteína
/
Metabolismo
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
Limite:
Humanos
/
Recém-Nascido
/
Gravidez
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Ano de publicação:
2015
Tipo de documento:
Artigo
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