Why You Should Get Educated on MTHFR Gene Mutations

Posted November 26, 2019 in Health, Medical No Comments »
MTHFR Gene Mutations

Methylenetetrahydrofolate reductase or also called MTHFR is a particular type of enzyme that breaks down the amino acid homocysteine and folate (aka folic acid). Both of these substances have their pros and cons. Excessive homocysteine is not so good, while folic acid is a B vitamin that’s important for cell growth and metabolism. A person with MTHFR Gene Mutations will suffer from too much homocysteine and not enough folate.

Homocysteine is an amino acid found in your blood. Eating meat is the most typical way to get it through diet. High levels of homocysteine are linked to the early development of heart disease. In fact, high homocysteine is a specific risk factor for heart disease, and is associated with low vitamin B6, B12, and folate, and is commonly linked to renal disease.

MTHFR has the potential to mutate, and it can either interfere with the enzyme’s ability to function normally or entirely inactivate it. People have two types of MTHFR genes that they inherit from each of their parents. It can affect one heterozygous or homozygous of these genes.

The MTHFR symptoms can be seen in approximately 25 percent of people of Hispanic descent and 10-15 percent of people of European descent. These mutations often cause high levels of homocysteine in the blood, and it can also cause many different health conditions such as birth abnormalities, mental health disorders, glaucoma cancer, cardiovascular disease, and others.

Common Symptoms of MTHFR Gene Mutations

The symptoms of this problem may vary depending upon the type of mutation. People do not know that they have MTHFR unless they experience symptoms or undergo genetic testing. In that case, having one or two MTHFR Gene Mutations may increase the level of homocysteine in the blood or urine and is known as homocystinuria. Homocysteine is a particular type of amino acid that the body produces by breaking down other dietary proteins. MTHFR symptoms may include these following conditions such as: 

Abnormal Blood Clotting

The abnormality of blood clotting is a common MTHFR symptom and is known as hypercoagulable disorder or thrombocytopenia. Some people develop blood clots in their body, such as in the deep Venus in the legs or the arteries of the heart. 

Developmental Delays 

MTHFR Gene Mutations may also cause developmental delays in your child. It means that the child does not reach his/her developmental milestones within the expected time. Delay in development can occur in many areas such as gross or fine motor, language, social, or thinking.


Seizures are another common MTHFR symptoms. There is a sudden and uncontrolled disturbance in the brain. It may cause various changes in human behavior, movements, or feelings, sometimes in the level of consciousness. The degree of seizures varies depending upon where and how they begin in the brain. 


This condition is where a baby’s head is smaller than expected. It can cause when the baby’s brain has not developed properly or has stopped growing after birth, which results in small head size. 

Numbness or Tingling Feeling in the Hands or Feet

People with MTHFR Gene Mutations can feel an unusual prickling sensation that can happen in any part of the body. These are noticed in hands, feet, arms, and legs. 

Bipolar Disorder

Bipolar disorder is a mental health disorder that marked with extreme shifts in mood. The symptoms of this problem can be an elevated mood, which is called mania or mental depression. Bipolar disorder is often known as manic depression. If anyone has Bipolar disorder, then he/ she will have trouble in managing everyday life tasks. 

MTHFR has no clear defined symptom by itself. In case you or someone you know are facing any of the symptoms mentioned above, then immediate medical attention has to be given.

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