MTHFR Polymorphisms and Disease

1st Edition

Per Magne Ueland

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CRC Press
Published September 15, 2005
Reference - 210 Pages
ISBN 9780429089695 - CAT# KE76509

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Summary

<P>Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in both folate and homocysteine metabolism. It first achieved medical recognition in 1972 with the report of severe deficiency of MTHFR in a patient with homocystinuria, an inborn error of metabolism characterized by marked elevation of homocyst(e)ine in plasma and urine. Although the majority of cases of homocystinuria are due to a deficiency of the first enzyme in the transsulfuration pathway for homocysteine metabolism, cystathionine-ß-synthase (CBS), disruption of homocysteine remethylation to methionine can also result in homocystinuria. With the identification of additional patients with severe MTHFR deficiency, the heterogeneity of this disorder became manifest.</P><br/><br/><P>This book covers many of the complex traits that have been reported to be influenced by the well-characterized 677C→T variant; there is less information on the 1298A→C variant, but it is discussed where appropriate. It is quite surprising, and unique, that a single variant should influence such a wide variety of clinical conditions.</P>

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