Folate deficiency

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Folate Deficiency

Folate deficiency, also recognized as vitamin B9 deficiency, is a health condition marked by inadequate levels of folate and its derivatives in the body. Essential for numerous bodily functions, including DNA synthesis, repair, and methylation, as well as cell division, folate deficiency can lead to a variety of health issues. One of the most significant manifestations of this deficiency is folate deficiency anemia, characterized by the presence of large-sized, abnormal red blood cells (megaloblasts).

File:MRI of Cerebral Folate Deficiency in 12 yo girl with Dihydropyridine Reductase Deficiency - after treatment.jpg
Blood smear showing megaloblastic anemia, a hallmark of folate deficiency.

Causes

Folate deficiency can result from several factors, including: - Inadequate dietary intake of folate-rich foods - Increased demand for folate in the body (e.g., pregnancy, lactation, rapid growth periods) - Malabsorption syndromes (e.g., celiac disease, Crohn's disease) - Certain medications (e.g., methotrexate, sulfasalazine) that interfere with folate metabolism - Alcoholism, which can impair folate absorption and increase folate excretion

Signs and Symptoms

The signs of folate deficiency are often subtle and can include: - Fatigue and weakness - Headaches - Palpitations - Shortness of breath - Irritability and mood changes A low number of red blood cells (anemia) is a later finding in folate deficiency, presenting with symptoms such as pallor and jaundice due to the presence of megaloblasts.

Diagnosis

Diagnosis of folate deficiency involves: - Complete blood count (CBC) to detect anemia - Blood smear to identify megaloblastic anemia - Serum folate level testing, which directly measures folate levels in the blood - Homocysteine and methylmalonic acid levels, which can be elevated in folate deficiency

Treatment

Treatment for folate deficiency focuses on: - Oral folate supplementation to restore normal levels - Dietary advice to increase intake of folate-rich foods, such as leafy green vegetables, fruits, nuts, and fortified cereals - Addressing any underlying causes of the deficiency, such as malabsorption issues or medication side effects

Prevention

Preventing folate deficiency involves: - Consuming a balanced diet rich in folate - Considering folic acid supplementation during pregnancy and other high-demand periods - Monitoring and managing conditions that may lead to malabsorption of nutrients

External Links

References

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