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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]
Evidence exists linking elevated homocysteine levels with vascular dementia [10] and Alzheimer's disease. [11] [12] [13] There is also evidence that elevated homocysteine levels and low levels of vitamin B6 and B12 are risk factors for mild cognitive impairment and dementia. [14]
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]
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.
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.
Subacute combined degeneration of spinal cord, also known as myelosis funiculus, or funicular myelosis, [1] also Lichtheim's disease, [2] [3] and Putnam-Dana syndrome, [4] refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin B 12 deficiency (most common).
High levels of homocysteine in the blood (hyperhomocysteinemia) is regarded as a marker of cardiovascular disease, likely working through atherogenesis, which can result in ischemic injury. Therefore, hyperhomocysteinemia is a possible risk factor for coronary artery disease .
Copper deficiency, or hypocupremia, is defined as insufficient copper to meet the body's needs, or as a serum copper level below the normal range. [1] Symptoms may include fatigue, decreased red blood cells, early greying of the hair, and neurological problems presenting as numbness, tingling, muscle weakness, and ataxia. [2]