What is MTHFR deficiency?

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MTHFR deficiency is a disease resulting from gene mutations. 

MTHFR gene determines the instructions for making an enzyme called methylenetetrahydrofolate reductase, which is very important in the formation of vitamin B9.

Patients with MTHFR deficiency don't have MTHFR gene so that they can't produce the MTHFR enzyme. 

However, it is lucky that MTHFR deficiency is a mild condition. It poses no risks to most people.

What's more, MTHFR enzyme, as a catalyst, plays an important role in the conversion of homocysteine into methionine, one of the essential amino acids that our body cannot produce. In other words, we can only absorb methionine by eating protein.

Therefore, MTHFR deficiency may cause increased levels of homocysteine in the bloodstream, while methionone levels decline. Blood pressure is likely to be influenced, with increased effects among pregnant women.

According to researches, MTHFR deficiency shows large variations among those affected. Environmental factors also contribute to the development of MTHFR deficiency.

MTHFR stands for methylenetetrahydrofolate reductase, it's an essential enzyme in human body. This enzyme plays a role in processing amino acids, the building blocks of proteins.

Being lack of this enzyme can increase the likelihood of the mental health issues incl. depression, ASD, ADHD, ipolar disorder, schizophre. In addition, when the enzyme is not working at normal capacity, it can lead to elevated levels of homocysteine in the blood, which can lead to cardiovascular disease and stroke, recurrent miscarriage, migraine with aura, osteoporosis, and some cancers.

MTHFR deficiency is a genetic disorder, it's result of mutation of MTHFR gene.

By some estimates, up to 40% of the population may have an MTHFR mutation of some kind. The current data suggest that between 6 and 14% of Caucasians and about 2% of those of African descent probably have a more severe (two mutated alleles) version of the mutation. In Hispanics, this number may be as high as 21%.
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.
The common MTHFR deficiencies are usually asymptomatic, although the 677T variant can cause a mildly increased risk of some diseases.

For individuals homozygous in the 677T variant, there is a mildly elevated risk of thromboembolism and stroke . There is also an elevated risk of neural tube defects among children of individuals with the C677T polymorphism.

For cardiovascular risk, common MTHFR deficiencies were once thought to be associated but meta-analyses indicate that correlation this was an artifact of publication bias