MTHFR is an enzyme that adds a methyl group to folic acid to make it usable by the body. The MTHFR gene produces this enzyme that is necessary for properly using vitamin B9. This enzyme is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth...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 you test for MTHFR?
A newborn screening is a simple blood test that checks for a variety of serious diseases. What happens during an MTHFR mutation test? A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial.