An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes
Journal of the Korean Neurological Association
; : 382-385, 2005.
Article
在 Ko
| WPRIM
| ID: wpr-201279
Responsible library:
WPRO
ABSTRACT
Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease. Hyperhomocysteinemia can be caused by the defect of the remethylation pathway including the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene or the transsulfuration pathway including the cystathionine beta-synthase (CBS) gene of homocysteine metabolism. The major cause of severe hyperhomocysteinemia is CBS gene mutation. A 16-year-old male was admitted with vertigo. Brain MRI showed right cerebellar infarction. The plasma homocysteine level was 175 mocro mol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes.
Key words
全文:
1
索引:
WPRIM
主要主题:
Oxidoreductases
/
Plasma
/
Brain
/
Magnetic Resonance Imaging
/
Vertigo
/
Risk Factors
/
Hyperhomocysteinemia
/
Stroke
/
Cystathionine beta-Synthase
/
Genotype
研究类型:
Etiology_studies
/
Risk_factors_studies
限制:
Adolescent
/
Humans
/
Male
语言:
Ko
期刊:
Journal of the Korean Neurological Association
年:
2005
类型:
Article