Keyword Analysis & Research: mthfr mutation


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What is MTHFR mutation and what does it mean?

MTHFR stands for Methylene-Tetra-Hydro-Folate-Reductase and is an enzyme that helps metabolize homocysteine. The heterozygous MTHFR gene mutation means the mutation is on one copy of the gene, while Homozygous means it is on both copies of the gene.

Is genetic testing necessary if you suspect MTHFR mutation?

Genetic testing is available for MTHFR gene variants, however testing is rarely recommended. The American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics recommends against testing for common MTHFR gene variants.

What is the MTHFR genetic defect and how can it affect you?

Effects on the Human Body. If you have an MTHFR mutation, an inability to process folic acid (vitamin B9) can have serious effects. A deficiency in B9 can cause a growing fetus to develop devastating neural tube defects like spina bifida or anencephaly. Folate deficiency can also result in lethargy, impaired cognitive function, and mood disorders.

How do MTHFR gene mutations affect your body?

What are the conditions associated with the MTHFR gene mutation? Increased susceptibility to cardiovascular and thromboembolic diseases ( blood clots, stroke, embolism, and heart attacks) Depression Anxiety Bipolar disorder Schizophrenia Colon cancer Leukemia (blood cancer) Severe pain and tiredness Nerve pain Migraines More items...


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