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Homocysteine (/ ˌ h oʊ m oʊ ˈ s ɪ s t iː n /; symbol Hcy) is a non-proteinogenic α-amino acid.It is a homologue of the amino acid cysteine, differing by an additional methylene bridge (-CH 2-).
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] Moderate: 15–30 nmol/mL (or μmol/L) Intermediate: 30–100 nmol/mL; Severe: > 100 ...
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 ...
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.
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.
The biomarker test is a spinal tap test (also called a lumbar puncture) that uses a needle to remove cerebrospinal fluid (i.e. the fluid inside your spine) to look for these specific clumping ...
Elevated homocysteine is an independent risk factor for cardiovascular disease and inversely correlated to consumed vitamin B12/B6 and folate levels. [37] Homocysteine methylation to methionine is catalyzed by MTR, resulting in appropriate intracellular levels of methionine and tetrahydrofolate, alongside non-toxic homocysteine levels.