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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 ...
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.
The resulting enzyme is thermolabile and in homozygotes, enzymatic activity is depressed to 35% of its usual level. [10] The second variant is a milder one, caused by a homologous 1298C polymorphism. This leads to 68% of the control values of enzyme activity, [10] and it normally does not lead to low serum folate. [9]
It thus is also a biomarker for intracellular levels of folate. The FIGLU test is used to identify vitamin B₁₂ deficiency, folate deficiency, and liver failure or liver disease. [1] [2] It is elevated with folate trapping, where it is accompanied by decreased methylmalonic acid, increased folate and a decrease in homocysteine. [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.
Dihydrofolate reductase deficiency (DHFR deficiency) is a rare inherited disorder of folate metabolism caused by defects in the DHFR gene. The disorder is inherited in the autosomal recessive manner and may present with megaloblastic anemia, cerebral folate deficiency and neurological symptoms of varying type and severity. The patient may have ...
In this article, all values (except the ones listed below) denote blood plasma concentration, which is approximately 60–100% larger than the actual blood concentration if the amount inside red blood cells (RBCs) is negligible.
Herbert, V. & Gottlieb, C. W. (1966) Haemoglobin-coated charcoal assay for serum vitamin in B-12. Blood 28:130-132. Das, K. C. & Herbert, V. (1978) The lymphocyte as a marker of past nutritional status: persistence of abnormal lymphocyte deoxyuridine (dU) suppression test and chromosomes in patients with past deficiency of folate and vitamin B-12.