what is homocysteinemia
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Homocysteine Homocysteine /ˌhoʊmoʊˈsɪstiːn/ is a non-protein α-amino acid. It is a homologue of the amino acid cysteine, differing by an additional methylene bridge (-CH2-). It is biosynthesized from methionine by the removal of its terminal Cε methyl group. Homocysteine can be recycled into methionine or converted into cysteine with the aid of certain B-vitamins.
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- homocystinuria-caused by mutations in the MTHFR gene. At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process certain amino acids properly.Most of these mutations change single amino acids in methylenetetrahydrofolate reductase.omocystinuria-caused by mutations in the MTHFR gene. At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process certain amino acids properly.
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What is an MTHFR Mutation? Individuals with low activity of the MTHFR enzyme may present with elevated homocysteine levels, which have been associated with inflammation and heart disease, birth defects, difficult pregnancies, and potentially an impaired ability to detoxify.
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- Studies from the mid- to late-1990s suggested that people who have elevated homocysteine levels have a much greater risk of heart attack or stroke than those with average levels. Investigating the link between high homocysteine levels and heart disease remains an active area of research.
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- Fortunately, homocysteine can also be converted into cysteine by the B vitamins, folate, B12 and B6. When an individual consumes large amounts of foods rich in these B vitamins, not only will homocysteine levels go down, but hydrogen sulfide levels can go up since the body uses cysteine to make hydrogen sulfide.he B vitamins folate, B6, and B12 are necessary cofactors in an essential cellular process called the methylation cycle. In this cycle, all three B vitamins are used to convert a potentially damaging molecule called homocysteine into the useful amino acid cysteine.
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Methionine Elevated Homocysteine Levels. High homocysteine levels have been associated with increase thrombosis (blood clots in the veins) and cardiovascular disease (atherosclerosis). It is considered corrosive to the collagen and elastin in our bodies.levated Homocysteine Levels. High homocysteine levels have been associated with increase thrombosis (blood clots in the veins) and cardiovascular disease (atherosclerosis). It is considered corrosive to the collagen and elastin in our bodies.
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Lower your homocysteine levels naturally Homocysteine is a metabolic byproduct of protein metabolism and in particular the metabolism of methionine. Methionine is found in meats, seafood, dairy products, eggs, sesame seeds and Brazil nuts. Homocysteine is metabolized through two pathways: remethylation and transsulfuration.
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- Furthermore, a MTHFR C677T mutation may cause elevated levels of homocysteine in the body. Homocysteine contributes to oxidative stress and increases risk of heart disease when elevated. MTHFR A1298C MTHFR A1298C mutations affect conversion of methylfolate into BH4, or tetrahydrobiopterin.ere is a brief overview of each type of mutation: MTHFR C677T If you are either heterozygous or homozygous for the MTHFR C677T mutations, your body has trouble converting folic acid into the active form of folate in the body.
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Useful For Direct mutation analysis for the MTHFR C677T and/or A1298C mutations in an asymptomatic family member with a normal basal homocysteine level is not useful.irect mutation analysis for the MTHFR C677T and/or A1298C mutations in an asymptomatic family member with a normal basal homocysteine level is not useful.
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- If your test results are different from the normal value, you may not have a problem. To learn what the results mean for you, talk with your health care provider. The normal range of homocysteine levels for people up to age 30 is 4.6 to 8.1 micromoles per liter (mcmol/L).
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Homocystinuria due to MTHFR deficiency Homocystinuria due to MTHFR deficiency is caused by mutations in the MTHFR gene. This gene tells the body how to make an enzyme, also called MTHFR. MTHFR is important for a chemical reaction in the body involving forms of the vitamin folate.
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What Are the Health Risks for Elevated Homocysteine Levels? Homocysteine is an amino acid. Amino acids are the building blocks of proteins. It is not possible to get homocysteine from the diet. It must be made from methionine, another amino acid that is found in meat, fish, and dairy products. Vitamins B6 (pyridoxine), B12 and folic acid are needed to make this reaction occur. Foods containing methionine are transformed into homocysteine in the bloodstream.
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- Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder.
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- High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations.
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- Homocysteine: An amino acid that is produced by the human body, usually as a byproduct of consuming meat. Homocysteine is normally converted into other amino acids. An abnormal accumulation of homocysteine, which can be measured in the blood, can be a marker for the development of heart disease.
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- Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder. more...
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homocysteine What is Homocysteine. Homocysteine is an amino acid, which is now considered a risk factor in several disease states. Elevated levels of homocysteine have been linked to increased risk of disease development and death from common conditions. Measured from the blood, homocysteine levels are a highly accurate way to determine health now and predict future predispositions to illnesses later on in life.
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Homocysteine: One of the Best Objective Markers of How Healthy You Are The amount of homocysteine in your blood is one of the best objective indicators of how healthy you are and how long you are going to live. A high blood level of homocysteine is a reliable risk factor for each of the following: Myocardial infarction (heart attack) Cerebrovascular accident (stroke) Cancer.
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Homocystinuria/Homocysteinemia Homocysteinemia may be due to a genetic predisposition to abnormal activity in the same pathways as homocystinuria. Nutritional and environmental factors, as well as specific medications, may worsen this abnormality and provoke symptoms. An increased homocysteine level is associated with a higher risk of strokes.
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MTHFR Mutation Two copies of A1298C are not typically associated with increased homocysteine levels. If the MTHFR mutation test is negative, then the C677T and A1298C mutations were not detected and the tested person's elevated homocysteine level is likely due to another cause.Other, more rare MTHFR genetic mutations will not be detected with typical testing.he methylenetetrahydrofolate reductase (MTHFR) mutation test is used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood.
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- Some of the excess homocysteine is excreted in urine. Rarely, homocystinuria can be caused by mutations in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Mutations in any of these genes prevent the enzymes from functioning properly, which leads to a buildup of homocysteine in the body.
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Homocysteine Blood Test Homocysteine Blood Test. The Homocysteine Test will measure the level of homocysteine, which is an amino acid, in your blood. A high level of blood serum homocysteine can increase the likelihood of a cardiovascular event, especially combined with other risk factors such as obesity, hypertension, diabetes or smoking. A significant deviation from the normal range may require further evaluation by your physician.
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Blog Post Vitamin B12 and homocysteine. When you have mthfr gene mutations you lack the enzymes responsible for the conversion of folate that you eat into the active form 5-Methyltetrahydrofolate, this important reaction is then directly involved in the utilization of vitamin B12 which is vitally important in the processing of homocysteine.
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Vitamin B12 and Folate B12 and folate levels may be ordered when a complete blood count (CBC) and/or blood smear, done as part of a health checkup or an evaluation for anemia, indicates a low red blood cell (RBC) count with the presence of large RBCs. Specifically, a high mean corpuscular volume (MCV) indicates that the RBCs are enlarged.ther laboratory tests that may be used to help detect B12 and folate deficiencies include homocysteine and methylmelonic acid (MMA) . Homocysteine and MMA are elevated in B12 deficiency while only homocysteine, and not MMA, is elevated in folate deficiency.