Titlebook: Homocysteine Metabolism: From Basic Science to Clinical Medicine; Ian Graham,Helga Refsum,Jill M. Shuman Book 1997 Springer Science+Busine

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Methylenetetrahydrofolate Reductase: Comparison of the Enzyme from Mammalian and Bacterial Sourcesfor the conversion of homocysteine to methionine in the reaction catalyzed by methionine synthase. Recent studies have provided evidence for association of a common polymorphism of methylenetetrahydrofolate reductase with elevated levels of blood homocysteine, a metabolite correlated with increased

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Thermolabile Methylenetetrahydrofolate Reductaseeterozygotes for severe MTHFR deficiency, specific enzyme activity of thermolabile MTHFR is 50% of the normal mean. Population analysis of the inheritance pattern follows an autosomal recessive trait, and thermolabile MTHFR is the most common homozygous genetic defect. Molecular analysis shows a hom

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The Long-Term Outcome in Homocystinuriaulation 6,000,000). Of 40 patients, ten died, of whom six early in the series had no treatment, and two had biochemically ineffective treatment. Of the two with effective treatment, one had an accidental death and one a pulmonary embolus. Among 32 adequately treated patients, 17 were pyridoxine resp

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Characterization of the Human and Porcine Methionine Synthases and Their Redox Partnerschanistic studies has been slow. This has largely been due to the difficulty in obtaining sufficient amounts of highly purified protein. We have recently reported on the purification to near homogeneity of highly active porcine liver methionine synthase [1]. Using antibodies that were generated agai