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A serum folate level of less than 7 nmol/L (3 μg/L) is indicative of folate deficiency; Red blood cell folate testing is not routinely performed, since serum folate is sufficient in most cases, however, if there is a strong suspicion of folate deficiency despite a normal serum folate level, a red cell folate test may be performed.
A different study corroborates these results and suggests a physiological dose (800 μg) of 5-methyltetrahydrofolate can bypass MTHFR C677T and A1298C isoforms in couples with fertility problems. [16] This treatment with 5-MTHF also avoids un-metabolized folic acid syndrome, which can occur with folic acid intakes of 5 mg per day. [16]
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]
In children with cerebral folate deficiency, the cerebrospinal fluid shows low levels of 5MTHF, and a loss of white matter in the brain (leukodystrophy) may occur. As a result of the decreased levels of 5MTHF, the child experiences low levels of Vitamin B folate. [12] There is inability for the 5MTHF to be transported across the blood-brain ...
[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]
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 ...
The CSF folate level is usually undetectable at the time of diagnosis. Even when the blood folate level is corrected, or far above normal, the CSF folate level remains low, consistent with impaired transport across the choroid plexus. The normal CSF folate level in children over the first three years of life is in the 75 to 150 nM range.
Megaloblastic anemia (MA) is associated with GSE and is believed to be the result of B 12 and folate deficiency. [23] In GSE, it appears to be associated with the IgA-less phenotype. [24] Unlike other forms of megaloblastic anemia, GSEA MA is not a form of autoimmune gastritis. [25] Pernicious anemia (PA).