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2005•Journal of the Korean Neurological AssociationRequires access

An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes.

Dong Hern Lee, Tae Sun Ha, Il Hyung Lee, Jae Min Lee, Seo Hyun Kim, Ji‐Yong Lee, Sungsoo Lee, Byung‐Ok Choi

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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 -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 mol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes.

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What this paper is about

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 -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 mol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes.

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Available 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 -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 mol/L. According to a genetic evaluation, the patient had the MTHFR 677TT and CBS 1080TT genotypes.

Key concepts: Methylenetetrahydrofolate reductase, Hyperhomocysteinemia, Homocysteine, Medicine, Cystathionine beta synthase, Internal medicine, Transsulfuration, Stroke (engine)

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An Adolescent Ischemic Stroke Patient with Hyperhomocysteinemia, MTHFR 677TT and CBS 1080TT genotypes. — Research Paper | ScholarLens