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  2. Methylenetetrahydrofolate reductase - Wikipedia

    en.wikipedia.org/wiki/Methylenetetrahydrofolate...

    Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. [5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.

  3. Methylenetetrahydrofolate reductase deficiency - Wikipedia

    en.wikipedia.org/wiki/Methylenetetrahydrofolate...

    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]

  4. Hyperhomocysteinemia - Wikipedia

    en.wikipedia.org/wiki/Hyperhomocysteinemia

    Genetic defects in 5-MTHF reductase can consequently lead to hyperhomocysteinemia. The most common polymorphisms are known as MTHFR C677T and MTR A2756G. [23] [24] The homozigote mutation G;G also called C;C (it is equivalent) occurs in about 10% of the population of european ethnicity (white caucasians). [25]

  5. Thrombophilia - Wikipedia

    en.wikipedia.org/wiki/Thrombophilia

    Thrombophilia (sometimes called hypercoagulability or a prothrombotic state) is an abnormality of blood coagulation that increases the risk of thrombosis (blood clots in blood vessels). [ 1 ] [ 2 ] Such abnormalities can be identified in 50% of people who have an episode of thrombosis (such as deep vein thrombosis in the leg) that was not ...

  6. rs1801133 - Wikipedia

    en.wikipedia.org/wiki/Rs1801133

    C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene. Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics. [1] It has been related to schizophrenia [2] Alzheimer's disease [3] depression [4 ...

  7. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

  8. Zero calorie sweetener linked to blood clots and risk of ...

    www.aol.com/common-sweetener-stevia-keto...

    Consuming a drink with erythritol — an artificial sweetener used to add bulk to stevia and monk fruit and to sweeten low-carb keto products — more than doubled the risk of blood clotting in 10 ...

  9. Tetrahydrobiopterin deficiency - Wikipedia

    en.wikipedia.org/wiki/Tetrahydrobiopterin_deficiency

    Additionally, mutations of the MTHFR gene (A1298C variant) and DHFR can interfere with the recycling of BH4 and lead to less severe, but still clinifically significant, deficiencies of BH4. [citation needed] BH4 is a compound that helps convert several amino acids, including phenylalanine, to other essential molecules in the body.

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