An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes
Journal of the Korean Neurological Association
;
: 382-385, 2005.
Artigo
em Coreano
| WPRIM
| ID: wpr-201279
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oxirredutases
/
Plasma
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Vertigem
/
Fatores de Risco
/
Hiper-Homocisteinemia
/
Acidente Vascular Cerebral
/
Cistationina beta-Sintase
/
Genótipo
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2005
Tipo de documento:
Artigo
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