A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene / 대한주산의학회잡지
Korean Journal of Perinatology
; : 348-351, 2015.
Article
in Ko
| WPRIM
| ID: wpr-9605
Responsible library:
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Oxidoreductases
/
Cerebral Infarction
/
Risk Factors
/
Coenzymes
/
Hyperhomocysteinemia
/
Stroke
/
Vitamin B 6
/
Folic Acid
/
Homocysteine
/
Metabolism
Type of study:
Etiology_studies
/
Risk_factors_studies
Limits:
Humans
/
Newborn
/
Pregnancy
Language:
Ko
Journal:
Korean Journal of Perinatology
Year:
2015
Type:
Article