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In common forms of MTHFR deficiency, elevated plasma homocysteine levels have sometimes been treated with Vitamin B12 and low doses of folic acid. [2] Although this treatment significantly decreases the serum levels of homocysteine, this treatment is not thought to improve health outcomes. [11] [12] [13]
Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. [5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.
As a consequence of the biochemical reactions in which homocysteine is involved, deficiencies of vitamin B 6, folic acid (vitamin B 9), and vitamin B 12 can lead to high homocysteine levels. [2] Other possible causes of hyperhomocysteinemia include genetics, excessive methionine intake, and other diseases. [3]
There is an association between the blood levels of homocysteine and thrombosis, [16] although this has not been reported consistently in all studies. [5] Homocysteine levels are determined by mutations in the MTHFR and CBS genes, but also by levels of folic acid, vitamin B 6 and vitamin B 12, which depend on diet. [14]
Signs of folate deficiency anemia most of the time are subtle. [4] Anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate deficiency in adults. [1] Folate deficiency anemia may result in feeling tired, weakness, changes to the color of the skin or hair, open sores on the mouth, shortness of breath, palpitations, lightheadedness, cold hands and feet, headaches, easy bleeding ...
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It is decreased with methyl folate trapping, where it is accompanied by decreased methylmalonic acid, increased folate, and a decrease in formiminoglutamic acid. [19] This is the opposite of MTHFR C677T mutations, which result in an increase in homocysteine. [citation needed]
One cause of cerebral folate deficiency is due to a genetic mutation in the FOLR1 gene. It is inherited in an autosomal recessive manner. [2] The mutation of the FOLR1 gene causes an inability to produce the FRA protein. [12] More commonly, CFD involves the malfunction and disruption of the folate receptor alpha (FRA). One way the FRA can be ...