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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]
Elevated homocysteine is an independent risk factor for cardiovascular disease and inversely correlated to consumed vitamin B12/B6 and folate levels. [37] Homocysteine methylation to methionine is catalyzed by MTR, resulting in appropriate intracellular levels of methionine and tetrahydrofolate, alongside non-toxic homocysteine levels.
Hyperhomocysteinemia is a medical condition characterized by an abnormally high level of total homocysteine (that is, including homocystine and homocysteine-cysteine disulfide) in the blood, conventionally described as above 15 μmol/L. [1]
Symptoms, Complete blood count, Peripheral blood smear, Vitamin B12 level, Red cell folate level Macrocytosis is a condition where red blood cells are larger than normal. [ 1 ] These enlarged cells, also known as macrocytes, are defined by a mean corpuscular volume (MCV) that exceeds the upper reference range established by the laboratory and ...
3. Folic Acid. Folic acid is a synthetic form of folate, a B vitamin found naturally in many foods. If you eat lots of dark leafy greens (like broccoli, spinach and asparagus), beans, nuts, seeds ...
Folate deficiency is diagnosed by analyzing a complete blood count (CBC) and plasma vitamin B 12 and folate levels. A serum folate of 3 μg/L or lower indicates deficiency. [98] Serum folate level reflects folate status, but erythrocyte folate level better reflects tissue stores after intake. An erythrocyte folate level of 140 μg/L or lower ...
Folate helps to reduce the extent of haemolysis in those with significant haemolysis due to hereditary elliptocytosis. [citation needed] Because the spleen breaks down old and worn-out blood cells, those individuals with more severe forms of hereditary elliptocytosis can have splenomegaly. Symptoms of splenomegaly can include: [citation needed]
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