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Folate deficiency, also known as vitamin B 9 deficiency, is a low level of folate and derivatives in the body. [1] This may result in megaloblastic anemia in which red blood cells become abnormally large, and folate deficiency anemia is the term given for this medical condition. [ 3 ]
Folate deficiency can be caused by unhealthy diets that do not include enough vegetables and other folate-rich foods; diseases in which folates are not well absorbed in the digestive system (such as Crohn's disease or celiac disease); some genetic disorders that affect levels of folate; and certain medicines (such as phenytoin, sulfasalazine ...
For people with the FOLR1 mutation, even when the systemic deficiency is corrected by folate, the cerebral deficiency remains and must be treated with folinic acid. Success depends on early initiation of treatment and treatment for a long period of time. [9] [3] Fewer than 20 people with the FOLR1 defect have been described in the medical ...
Macrocytic anemias have several causes but with the implementation of folic acid fortification in North America, folate deficiency has become a rare cause of megaloblastic macrocytic anemia in that part of the world. [1] In this region, Vitamin B 12 deficiency is a far more common cause of megaloblastic macrocytic anemia. [1]
Folate acts as a co-enzyme in the form of tetrahydrofolate (THF), which is involved in the transfer of single-carbon units in the metabolism of nucleic acids and amino acids. THF is involved in purine and pyrimidine nucleotide synthesis, so is needed for normal cell division, especially during pregnancy and infancy, which are times of rapid growth.
Similarly, folate deficiency has been linked to neural tube defects. [73] Iodine deficiency is "the most common preventable cause of mental impairment worldwide." [74] [75] "Even moderate [iodine] deficiency, especially in pregnant women and infants, lowers intelligence by 10 to 15 I.Q. points, shaving incalculable potential off a nation's ...
Macroovalocytes are enlarged, oval-shaped erythrocytes (red blood cells). They are not seen in healthy blood, and are most commonly seen in megaloblastic anemia. [1] In most instances, the macroovalocyte morphology is due to megaloblastic erythropoiesis (Vitamin B-12 or folate deficiency) but may be seen with dyserythropoiesis.
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 ...