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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]
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 indicates inadequate folate status. Serum folate reacts more rapidly to folate intake than erythrocyte folate. [113]
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.
Reference ranges (reference intervals) for blood tests are sets of values used by a health professional to interpret a set of medical test results from blood samples. Reference ranges for blood tests are studied within the field of clinical chemistry (also known as "clinical biochemistry", "chemical pathology" or "pure blood chemistry"), the ...
[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]
In treated GSE, the restrictions on diet as well as reduced absorption as a result of prolonged damage may result in post-treatment deficiencies. [5] Vitamin A – Poor absorption of vitamin A has been seen in coeliac disease. [6] and it has been suggested that GSE-associated cancers of the esophagus may be related to vitamin A deficiency [7] [8]
Deficiency can also result from rare genetic factors, such as mutations in the MTHFR gene that lead to compromised folate metabolism. [33] [34] Cerebral folate deficiency is a rare condition in which concentrations of folate are low in the brain despite being normal in the blood. [35] Vitamin B 12 deficiency: Anemia, neurological and digestive ...