Cerebellar stroke in a young female associated with elevated homocysteine levels and heterozygous MTHFR <em style="mso-bidi-font-style: normal;">C677T</em> gene: A case report.
Piyumali Nawarathne,
Wasantha Karunaratne,
Prasanna Weerawansa
et al.
Abstract:Homocysteine is an amino acid, which is an intermediate in the metabolism of methionine and cysteine. Elevated homocysteine levels are recognized as a cause for both arterial and venous thrombotic phenomena. Methylenetetrahydrofolatereductase -encoded by MTHFR gene- is the rate-limiting enzyme of the remethylation of homocysteine to methionine. Homozygous MTHFR T677T gene mutation can independently cause raised homocysteine levels and increase the risk of thrombosis whereas heterozygous MTHFR C677T gene mutati… Show more
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