Vitamin deficiency resulting in megaloblastic anemia may result from inadequate intake of cobalamin and folate in the diet, poor absorption of these vitamins by the intestines or improper utilization of these vitamins by the body. Without these essential vitamins, the creation (synthesis) of deoxyribonucleic acid (DNA), the genetic material found in all cells, is hampered. These two vitamins serve as building blocks and are essential for the production of healthy cells such as the precursors to red blood cells. The most common causes of megaloblastic anemia are deficiency of either cobalamin (vitamin B12) or folate (vitamin B9). Folate deficiency is generally considered not to result in neurological symptoms, although some recent research suggests that, in rare cases, it may cause some neurological symptoms. In rare cases of cobalamin deficiency, neurological symptoms may occur before the characteristic findings of anemia. The spectrum of potential neuropsychological symptoms potentially associated with cobalamin deficiency is large and varied. A variety of psychiatric abnormalities have also been reported in individuals with cobalamin deficiency including depression, insomnia, listlessness, and panic attacks. Additional symptoms develop over time including balance or gait problems, vision loss due to degeneration (atrophy) of the nerve that transmits impulses from the retina to the brain (optic nerve), and mental confusion or memory loss. The initial neurological symptom may be tingling or numbness in the hands or feet. Megaloblastic anemia resulting from cobalamin deficiency may also be associated with neurological symptoms. Mild enlargement of the liver (hepatomegaly) and a slight yellowing of the skin or eyes (jaundice) may also occur. These abnormalities may result in unintended weight loss. Some affected individuals may develop a sore, reddened tongue. Individuals with megaloblastic anemia may also develop gastrointestinal abnormalities including diarrhea, nausea, and loss of appetite. ![]() The specific symptoms present in each individual can vary greatly.Īdditional common symptoms include aches and pains, muscle weakness, and difficulty breathing (dyspnea). Symptoms common to anemia usually develop at some point and may include fatigue, paleness of the skin (pallor), shortness of breath, lightheadedness, dizziness and a fast or irregular heartbeat. In most cases, megaloblastic anemia develops slowly and affected individuals may remain without any apparent symptoms (asymptomatic) for many years. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies.
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