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Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
Treatment should take into account the cause and severity of the condition. [6] Treatment is done by vitamin B 12 supplementation, either by mouth or by injection. [3] Initially in high daily doses, followed by less frequent lower doses, as the condition improves. [3] If a reversible cause is found, that cause should be corrected if possible. [11]
Various methods of gastric bypass or gastric restriction surgery are used to treat morbid obesity. Roux-en-Y gastric bypass surgery (RYGB) but not sleeve gastric bypass surgery or gastric banding, increases the risk of vitamin B 12 deficiency and requires preventive post-operative treatment with either injected or high-dose oral supplementation.
Treatment using oral drugs is an easier option in management but the bioavailability of B12 is low. This is due to low absorption in the intestine, and breakdown by enzyme activity. Research continues to focus on the use of permeation enhancers or permeation absorbers in combination with the treatment.
The resulting elevated concentrations of homocysteine and MMA are often found in patients with low serum vitamin B 12 and can usually be lowered with successful vitamin B 12 replacement therapy. However, elevated MMA and homocysteine concentrations may persist in patients with cobalamin concentrations between 200 and 350 pg/mL. [ 23 ]
Cyanocobalamin is a form of vitamin B 12 used to treat and prevent vitamin B 12 deficiency except in the presence of cyanide toxicity. [7] [8] [2] The deficiency may occur in pernicious anemia, following surgical removal of the stomach, with fish tapeworm, or due to bowel cancer.
Signs of folate deficiency anemia most of the time are subtle. [4] Anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate deficiency in adults. [1] Folate deficiency anemia may result in feeling tired, weakness, changes to the color of the skin or hair, open sores on the mouth, shortness of breath, palpitations, lightheadedness, cold hands and feet, headaches, easy bleeding ...
Blood in stool looks different depending on how early it enters the digestive tract—and thus how much digestive action it has been exposed to—and how much there is. The term can refer either to melena, with a black appearance, typically originating from upper gastrointestinal bleeding; or to hematochezia, with a red color, typically originating from lower gastrointestinal bleeding. [6]