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A blood test can be performed to quantify total homocysteine concentration in the plasma, of which approximately 80% is generally protein-bound. Classification of hyperhomocysteinemia is defined with respect to serum concentration as follows: [ citation needed ]
In the body, homocysteine can be recycled into methionine or converted into cysteine with the aid of vitamin B 6, B 9, and B 12. [3] 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.
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]
Blood tests: A blood test can measure vitamin B12 levels, along with other markers such as homocysteine and methylmalonic acid, which may also indicate a deficiency. Imaging studies: If gastrointestinal cancer is suspected, imaging techniques like CT scans, MRIs, or endoscopy are used to identify tumors or other abnormalities in the digestive ...
High blood levels of homocysteine have been linked to Alzheimer’s disease and other forms of dementia. Butternut squash. Winter squashes such as butternut squash, acorn squash, and pumpkin are ...
Homocystinuria (HCU) [2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. [3] It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.
Increased homocysteine levels suggest tissue folate deficiency, but homocysteine is also affected by vitamin B 12 and vitamin B 6, renal function, and genetics. One way to differentiate between folate deficiency and vitamin B 12 deficiency is by testing for methylmalonic acid (MMA) levels.
A serum folate level of less than 7 nmol/L (3 μg/L) is indicative of folate deficiency; Red blood cell folate testing is not routinely performed, since serum folate is sufficient in most cases, however, if there is a strong suspicion of folate deficiency despite a normal serum folate level, a red cell folate test may be performed.