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Vitamin B 12 deficiency prevents the 5-methyltetrahydrofolate (5-MTHF) form of folate from being converted into THF due to the "methyl trap". [18] This disrupts the folate pathway and leads to an increase in homocysteine which damages cells (for example, damage to endothelial cells can result in increased risk of thrombosis).
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 ...
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]
Vitamin B 12 deficiency, also known as cobalamin deficiency, is the medical condition in which the blood and tissue have a lower than normal level of vitamin B 12. [5] Symptoms can vary from none to severe. [ 1 ]
[56] [57] Low levels of serum vitamin B 12 may be caused by other factors than B 12 deficiency, such as folate deficiency, pregnancy, oral contraceptive use, haptocorrin deficiency, and myeloma. [57] High serum levels may caused by supplementing with vitamin B 12, present of antibodies to intrinsic factor, or due to underlying condition. [56]
Vitamin B 12 deficiency is but one among the conditions that can lead to dysfunction of this enzyme and a buildup of its substrate, methylmalonic acid, the elevated level of which can be detected in the urine and blood. Due to the lack of available radioactive Vitamin B 12, the Schilling test is now largely a historical artifact. [citation ...
Vitamin B12 deficiency symptoms . Vitamin B12 deficiency has a few hallmark symptoms, according to doctors: Lack of energy. Mental fatigue. Nausea, vomiting, or diarrhea. Lack of appetite. Weight loss
One way to differentiate between folate deficiency and vitamin B 12 deficiency is by testing for methylmalonic acid (MMA) levels. Normal MMA levels indicate folate deficiency and elevated MMA levels indicate vitamin B 12 deficiency. [98] Elevated MMA levels may also be due to the rare metabolic disorder combined malonic and methylmalonic ...