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. Of particular relevance to the comments below was the report of a heat-sensitive MTHFR in some homocystinuric patients, which was assumed to be caused by a deleterious mutation.
Landes Bioscience; December 2005
- ISBN 9781587063978
- Read online, or download in secure PDF format
- Title: MTHFR Polymorphisms and Disease
- Author: Per Magne Ueland (ed.); Rima Rozen
Imprint: Landes Bioscience