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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 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 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]
A blood test can be performed to quantify total homocysteine concentration in the plasma, of which approximately 80% is generally protein-bound. Classification of hyperhomocysteinemia is defined with respect to serum concentration as follows: [citation needed] Moderate: 15–30 nmol/mL (or μmol/L) Intermediate: 30–100 nmol/mL; Severe: > 100 ...
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]
4524 17769 Ensembl ENSG00000177000 ENSMUSG00000029009 UniProt P42898 Q9WU20 RefSeq (mRNA) NM_005957 NM_001330358 NM_001161798 NM_010840 RefSeq (protein) NP_001317287 NP_005948 NP_001155270 NP_034970 Location (UCSC) Chr 1: 11.79 – 11.81 Mb Chr 4: 148.12 – 148.14 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme ...
One cause of cerebral folate deficiency is a mutation in a gene responsible for folate transport, specifically FOLR1. [ 2 ] [ 4 ] This is inherited in an autosomal recessive manner. [ 2 ] Other causes appear to be Kearns–Sayre syndrome [ 5 ] and autoantibodies to the folate receptor .
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 ...
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