MTHFR sumptoms

MTHFR gene mutation symptoms

Do you have MTHFR gene mutation symptoms?

A lot of people are now wondering if they have a gene mutation called MTHFR which is a problem in genetics & methylation and it’s a fair question given that approximately 53% of the population has the gene mutation.  Here we will explore the MTHFR gene mutation symptoms in depth to help you decide if you need the test for confirmation.

MTHFR gene mutation symptoms explained

If you have the MTHFR gene mutation you can expect to have multiple complicated symptoms, this is because of the simple fact that:

  • Your body can NOT use folic acid properly
  • Folate & folic acid has its own set of deficiency symptoms
  • Folate & folic acid is needed to make other vitamins & minerals work properly, this means that MTHFR gene mutation symptoms can look like other vitamin & mineral deficiency symptoms
  • The gene mutation can take years to set in which creates multiple health problems such as toxicity and disease

So let’s break down the symptoms from start to finish so you have a complete picture of what MTHFR gene mutation symptoms may look like for you, at what ever stage you may be, but before we break down the symptoms lets start with an overview of the above….

MTHFR gene mutation symptoms overview

Lets say you have the MTHFR gene mutation and you’re at the stage where you are experiencing all of the above complicated symptoms, here is what that means:

You can’t use folate or folic acid properly, this leads to an inability to use vitamin b12, this is because folic acid works with vitamin b12. Now it’s important to understand that at this point you are already in big trouble because both these essential nutrients are present in your body but they can’t work together, this leads to an inability to properly do the following:

  • Repair your brain & nerves
  • Be able to use protein such as amino acids for maintenance and repairs
  • Be able to build red blood cells to carry oxygen
  • Be able to express DNA properly
  • Be able to detoxify toxins & heavy metals
  • Be able to produce energy properly

Next problem you have is the side effects of the above as these two essential vitamins can’t work together there is a spin off affect that involves all of your vitamin b group & iron all being thrown into disarray, this further affects multiple vitamin & mineral pathways that depend on that initial process of folic acid and b12 getting along properly.

What we are saying here is, that by the time MTHFR gene mutation symptoms appear they can appear as any of the following:

  • Any vitamin, mineral, amino acid and or essentail fatty acid deficiencies or excesses
  • Build up of toxins & heavy metals leading to any adverse symptoms or disease
  • Homocysteine imbalances
  • Chronic illness and life threatening disease
  • Infertility
  • Physical pain
  • Mental health problems
  • Breakdown in the energy production systems
  • Inability to properly make vital repairs to your body

MTHFR gene mutation symptoms breakdown

Here we will break down the MTHFR gene mutation symptoms into the individual possibilities, keep in mind that onset of symptoms may come later in life, often people with MTHFR gene mutation only become aware of it after its done serious damage and thus symptoms stand out much more clearly.

Keep in mind also that the gene mutations can vary in intensity, some people have 1 part of the gene mutation and other people have both parts of the mutation such as:

  • MTHFR Gene Mutation (C677T) – This causes cytosine changes to a thymine causing alanine to switch to valine.
  • MTHFR Gene Mutation (A1298C) – This causes adenine changes to a cytosine causing glutamate to switch to alanine.

Further the severity of the gene mutation also depends on how much or how little a person experiences symptoms.

Stage 1 MTHFR gene mutation symptoms

The following MTHFR gene mutation symptoms relate to deficiency symptoms you may experience from the vitamins and minerals that are directly involved:

Folic acid deficiency symptoms – Anaemia, eczema, cracked lips, prematurely greying hair, anxiety, tension, poor memory, lack of energy, poor appetite, stomach pains, depression.

Vitamin B12 deficiency symptoms – Poor hair condition, eczema or dematitis, mouth oversenitive to heat or cold, irritability, anxiety, tension, lack of energy, constipation, tender or sore muscles, pale skin.

Vitamin B5 deficiency symptoms – Muscle tremors or cramps, apathy, poor concentration, burning feet or tender heals, nausea or vomiting, lack of energy, exhaustion after light exercise, anxiety, tension, teeth grinding.

Iron deficiency symptoms – Anaemia, sore tongue, fatigue, listlessness, loss of appetite, nausea, sensitivity to cold.

Other B group vitamin deficiencies – Tender muscles, eye pains, irritability, poor concentration, prickly legs, poor memory, stomach pains, constipation, tingling hands, rapid heartbeat, burning or gritty eyes, sensitivity to bright lights, sore tongue, cataracts, dull or oily hair, split nails, diarrhoea, insomnia, headaches or migraines, bleeding or tender gums, acne, infrequent dream recall, water retention, tingling hands, flaky skin.

Stage 2 MTHFR gene mutation symptoms

The following MTHFR gene mutation symptoms relate to the most common symptoms experienced along with any one or more of the above symptoms, these symptoms are often the longer term result of the gene mutation:

  • Alcohol withdrawal seizure (muscle tension after alcohol withdrawal)
  • Autism
  • Cardiovascular disease: thromboembolism, artherosclerosis and mycocardial infarction
  • Colorectal neoplasias
  • Dementia and memory loss
  • Depression and Irritability
  • Elevated homocysteine
  • Hypertenstion
  • Increased breast cancer risk (women >55 years of age)
  • Neural tube and other birth defects
  • Peripheral neuropathy
  • Reduced lean body mass and increased body fat
  • Schizophrenia
  • Stroke

Questions to ask your self about MTHFR gene mutation symptoms

Do you have any of the following from previous blood tests…

  • Elevated red cell folate levels?
  • Is your serum B12 <400, or really high B12 with B12 deficiency symptoms(see above vitamin B12 deficiency symptoms)?
  • Is your homocysteine elevated above 8 umol?

Testing for MTHFR gene mutation

Finding out if you have the gene mutation is easy, this can be done at home with a home blood spot test or if you don’t like the sight of blood you can opt for taking the pathology blood test.  The positive side of testing for the gene is that it can be life changing, many of the health problems can be resolved and a quality of life can be restored.

Additional tests that assist people who are positive to MTHFR gene mutations include:

The Folate metabolism test – This test takes a much closer look at how the MTHFR condition may be affecting your folate cycle so that a customized treatment can be prescribed.

The methionine metabolism test – This test takes a much closer look at how the MTHFR condition may be affecting your methionine metabolism cycle so that a customized treatment can be prescribed.

The dangers of the MTHFR gene mutation

The MTHFR gene mutation left undetected carries with it several serious dangers to your health, while there are obvious serious health problems associated to the disorder there are a couple of factors that warrant mentioning and investigating for anyone who has experienced any of the above MTHFR gene mutation symptoms, these include:

Homocysteine – People with MTHFR gene mutation have to monitor their homocysteine which can actually be a strong indicator for the possibility of heart attack and other serious life threatening diseases.

Heavy metal toxicity – People with MTHFR gene mutations are often burdened with high levels of toxic heavy metals, this is because folic acid and vitamin B12 normally work together to remove these dangerous substances from the body via the liver which the MTHFR gene prevents from happening.

Toxic heavy metals therefore accumulate leading to other serious health problems with their own set of symptoms that could indicate the MTHFR gene mutation & other diseases.  Testing for heavy metal toxicity is highly recommended for those suspected of any of the above symptoms.  A hair mineral analysis can help discover toxic heavy metals and can also help determine if you have a other genetic conditions that prevent detoxification.

Environmental Toxins & MTHFR gene mutation symptoms – Another big problem for those with MTHFR gene mutation is again, the folic acid and vitamin B12 disconnection, this disables the liver from detoxifying dangerous environmental toxins that can easily build up in the body of those with the gene mutation.

This effects the citric acids cycle and toxic substances such as solvents like benzene & toxic plastics for example can build up, again these present as their own set of symptoms.  It is not uncommon to find a person who has the MTHFR gene and have multiply organic acid imbalances that cause chronic health conditions and disease, often there are serious amino acid imbalances preventing detoxification.

Testing for these environmental toxins and the organics acids is highly recommended for those who can identify with any of the symptoms discussed on this page and any of the links on this page.

MTHFR Treatments & Warnings

Its important to understand that treatments for the MTHFR gene mutations varies greatly dependent upon you as an individual.

Supplementing 5-MTHF or activated folate is NOT always the treatment advised and in some cases can be dangerous.

Supplementing 5-MTHF or activated folate can cause methyl trapping which can send a person into deep depression, do NOT take the supplement without proper guidance.

If you have the gene mutation ask one of our experts to guide you through the best way to treat your condition as an individual.

Have any questions about the symptoms of MTHFR gene mutations?  Ask one of our qualified health practitioners here.


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