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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 ]
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]
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] Signs of folate deficiency are often subtle. [4]
Symptoms, Complete blood count, Peripheral blood smear, Vitamin B12 level, Red cell folate level Macrocytosis is a condition where red blood cells are larger than normal. [ 1 ] These enlarged cells, also known as macrocytes, are defined by a mean corpuscular volume (MCV) that exceeds the upper reference range established by the laboratory and ...
Normal MMA levels indicate folate deficiency and elevated MMA levels indicate vitamin B 12 deficiency. [98] Elevated MMA levels may also be due to the rare metabolic disorder combined malonic and methylmalonic aciduria (CMAMMA). [117] [118] Folate deficiency is treated with supplemental oral folic acid of 400 to 1000 μg per day.
Homocysteine levels typically are higher in men than women, and increase with age. [15] [16] Common levels in Western populations are 10 to 12 μmol/L, and levels of 20 μmol/L are found in populations with low B-vitamin intakes or in the elderly (e.g., Rotterdam, Framingham). [17] [18]
It thus is also a biomarker for intracellular levels of folate. The FIGLU test is used to identify vitamin B₁₂ deficiency, folate deficiency, and liver failure or liver disease. [1] [2] It is elevated with folate trapping, where it is accompanied by decreased methylmalonic acid, increased folate and a decrease in homocysteine. [3]
Blood tests may show low levels of vitamin B 12, elevated levels of methylmalonic acid or homocysteine, and a routine complete blood counts may shows anemia with an elevated mean cell volume. [140] The presence of antibodies to gastric parietal cells and intrinsic factor may indicate pernicious anemia .