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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]
At nucleotide 1298 of the MTHFR, there are two possibilities: A or C. 1298A (leading to a Glu at amino acid 429) is the most common while 1298C (leading to an Ala substitution at amino acid 429) is less common. 1298AA is the "normal" homozygous, 1298AC the heterozygous, and 1298CC the homozygous for the "variant".
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 ]
Feb. 16—With those New Year's resolutions six weeks behind us, some people may have reverted to less healthy ways of eating. Heart Month is a great time to remind yourself why a healthy diet is ...
The Mayo Clinic diet was created by weight management practitioners at the Mayo Clinic and was designed as a lifestyle change program to promote gradual and sustained weight loss, says Melissa ...
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Heterozygous FH is a common genetic disorder, inherited in an autosomal dominant pattern, occurring in 1:250 people in most countries; [3] homozygous FH is much rarer, occurring in 1 in 300,000 people. [citation needed] Heterozygous FH is normally treated with statins, bile acid sequestrants, or other lipid-lowering agents that lower ...
The Mayo Clinic Diet is a diet book first published in 1949 by the Mayo Clinic's committee on dietetics as the Mayo Clinic Diet Manual. [1] Prior to this, use of the term "diet" was generally connected to fad diets with no association to the clinic.