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Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
Low dietary intake of the vitamin folate can also cause mild hyperhomocysteinemia. Low folate intake affects individuals with the 677TT genotype to a greater extent than those with the 677CC/CT genotypes. 677TT (but not 677CC/CT) individuals with lower plasma folate levels are at risk for elevated plasma homocysteine levels. [21]
Patients present with cerebral folate deficiency, a condition in which there are reduced levels of 5-MTHF in the cerebrospinal fluid. However, contrary to other causes of cerebral folate deficiency, the use of folinic acid for treatment may be contraindicated due to excess levels of folinic acid in the organism of patients. [3]
Cerebral folate deficiency is a condition in which concentrations of 5-methyltetrahydrofolate are low in the brain as measured in the cerebral spinal fluid despite being normal in the blood. [3] Symptoms typically appear at about 5 to 24 months of age.
Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (MTHFD1) is a gene located in humans on chromosome 14 [4] that encodes a protein, C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase, with three distinct enzymatic activities.
Folate deficiency anemia during pregnancy may give rise to the birth of low weight birth premature infants and infants with neural tube defects. [6] Not consuming enough folate can lead to folate deficiency within a few months. [1] Otherwise, causes may include increased needs as with pregnancy, and in those with shortened red blood cell ...
Since low potassium levels can also lead to hypertension, getting a little boost in the form of a salt substitute is a win-win. The WHO recommends increasing potassium intake from food sources ...
Low levels in early pregnancy are believed to be the cause of ... Methylenetetrahydrofolate ... The risk of toxicity from folic acid is low because folate is a water ...