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There is a case report which revealed type I von Willebrand factor (VWF) deficiency, FVL and heterozygote factor V Leiden mutation, heterozygote methylene tetrahydrofolate reductase C677T (MTHFR) gene mutation, and activated protein C resistance.8
The high prevalence of thermolabile 5-10 methylene tetrahydrofolate reductase risk for coronary artery disease (CAD).
Table 1 Common Polymorphisms in the Gene for MTHFR Affect Enzymatic Activity * Polymorphism Frequency, % Enzymatic Activity, % C677T CC 40-50 100 CT 40 60 TT 8-10 30 A1298C AA 40-50 100 AC 30-40 80-90 CC 8-12 60 * MTHFR indicates methylene tetrahydrofolate reductase.
Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians.
Association of polymorphism in the thermolabile 5, 10-methylene tetrahydrofolate reductase gene and hyperhomocysteinemia with coronary artery disease.
The Nathan/Van Konynenburg studies showed the following in plasma from ME/CFS patients: Initial levels before therapy was initiated showed all four reduced folates studied, including 5-methyltetrahydrofolate (5-MTHF); tetrahydrofolate and folinic acid were all low in CFS patients; S-adenosyl methionine (SAM) was modestly low (circa 10%); reduced glutathione (GSH) was low; and GSH/GSSG (oxidized glutathione) was low.
Thrombophilia investigation included determinations of protein C, protein S, antithrombin, and activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylene tetrahydrofolate reductase (MTHFR) C677T mutations, antiphospholipid antibodies (APA), factor VIII levels, and homocysteine levels.
Moreover, folic acid is a fully oxidized folate species, which enters the folate pool by a route involving reduction to dihydrofolate and further reduction to tetrahydrofolate. It has been hypothesized that folic acid in this way bypasses the so-called methylfolate trap, which may occur in cobalamin deficiency.
(4) The factor V Leiden mutation, the prothrombin gene mutation and methylene tetrahydrofolate reductase mutation have also been noted Hypercoagulable state of pregnancy increases the risk of venous thromboembolism and the use of contraceptive pills (until 6 months before pregnancy) is also said to cause Budd-Chiari syndrome.
Intrinsi B12/folate (11): 1/4 tabletdaily-combination of folic acid, 5-methyl tetrahydrofolate, and folinic acid (200 meg); cyanocobalamin (125 mcg); calcium (22.5 mg); phosphorus (17.25 mg); and intrinsic factor (5 mg)12
Methyltetrahydrofolate is the major intracellular storage form of folates, and its synthesis from 5,10-methylene tetrahydrofolate is essentially irreversible in vivo [2,3].
Because the influence of cobalamin on As methylation could depend on an adequate supply of 5-methyl tetrahydrofolate (THF), we further examined associations between cobalamin and uAs metabolites by folate status (Table 4).