What are the MTHFR Symptoms?
Do you have MTHFR symptoms?
If you’re experiencing any of the following symptoms, it may be worth exploring the possibility of having an MTHFR gene mutation:
Fatigue or weakness
Shortness of breath
Muscle weakness
Poor wound healing
Seizures
Delayed speech and language development
Poor growth and development
High levels of homocysteine in the blood
Low levels of folate and other vitamins
Keep in mind that many people with MTHFR gene mutations do not exhibit any symptoms, and some may only experience mild symptoms. If you’re concerned about your health, it’s always best to consult with a healthcare professional.
Do you have MTHFR symptoms?
The symptoms of MTHFR mutations are, to say the least, very complicated health effects. Because MTHFR variants don’t just cause a problem with folate metabolism. But also this causes several major problems that all have their own set of symptoms. Here we will look at each possibility and the symptoms that you could experience with the MTHFR gene mutation.
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays a crucial role in processing homocysteine, an amino acid in the blood. Mutations in the MTHFR gene can lead to elevated levels of homocysteine, which is associated with various health conditions. There are many MTHFR gene variants with the main two being tested including the two common – one copy MTHFR C677T & one copy MTHFR A1298C. MTHFR stands for methylenetetrahydrofolate reductase. An MTHFR gene variant is a gene that has a variation such as being heterozygous (one copy of a varied gene) or homozygous (2 copies of a varied gene). 5 MTHF is the supplemental version of activated folate which should only be used under strict supervision. It’s also good to understand your MTHFR mutation status in terms of what percentage they are active or not.
Medical treatment
It’s very important to understand that the right advice, diagnosis or treatment be used as your doctor may provide medical advice diagnosis, however this does not mean they understand the depth of the problem which is very common.
The MTHFR gene mutation test is significant in diagnosing potential genetic variations that may impact health, particularly relating to folate processing and homocysteine levels. Your doctor may also prescribe one or 2 supplements/drugs which will miss 99% of the underlying problems. Genetic testing of an mthfr variant can be done by us using our genetic testing lab tests or we can establish deeper level problems associated with mthfr using your ancestry or 23andme raw data genetic testing which contain hundreds of genes. Contact us here for advice diagnosis or treatment. One of the biggest complaints we hear is that their doctor didn’t really understand the problem and that they didn’t feel confident in their advice on the subject of MTHFR.
The most obvious symptoms of MTHFR gene problems
Folate, folic acid and or methylenetetrahydrofolate reductase deficiency is an obvious sign. But it doesn’t always appear as the first sign if you have the mthfr mutation. Often these symptoms are missed early on allowing other bigger problems to develop that have higher health risks which may lead to some serious disease, will explore some of these on this page.
The MTHFR gene provides instructions for creating the MTHFR protein, which is essential for producing folate, a vital B vitamin necessary for DNA synthesis and for breaking down homocysteine, an amino acid that can lead to health issues if present at high levels.
Some of the signs of a folate (vitamin b9) deficiency from methylenetetrahydrofolate reductase deficiency from mutations c677t and a1298c include but are not limited to anemia, eczema, cracked lips, prematurely greying hair, anxiety, tension, poor memory, lack of energy, blood clots, poor appetite, stomach pains, depression, neural tube defect infertility, blood cells that are odd shaped and misarrange. Further elevated homocysteine in their blood or imbalanced levels of homocysteine, elevated folate levels on a blood test can be the result of dysfunctional MTHFR genes which vary from person to person.
Folate or folic acid deficiency risk factors & symptoms
Understanding the depth of the problem
Now, it’s really important to understand at this point that when you have a folic acid or folate deficiency. It will have an effect on ALL of your vitamin B groups. Also for each person with the MTHFR mutation the symptoms can appear differently depending on which MTHFR mutation or gene mutation you have and how it affects you personally. Here are the more obvious symptoms of vitamin B group imbalances:
Anemia
Anxiety
Apathy
Bleeding or tender gums
Burning feet or tender heals
Burning or gritty eyes
Blood clots
blood or urine problems
Cataracts
Constipation
Cracked lips
Depression
Diarrhea
Dry skin
Dull or oily hair
Eczema or dermatitis
Exhaustion after light exercise
Eye pains
Flaky skin
Headaches
Homocysteine levels (high or low)
Imbalanced levels of homocysteine
homocystinuria due to poor methylation
homocystinuria due to methionine metabolism problems
Inability to exercise
Infrequent dream recall
Insomnia
Irritability
Lack of energy
Migraines
Muscle cramps
Muscle tremors
Nausea
Nervousness
Neural tube defect
Oversensitive mouth to heat or cold
Poor concentration
Poor appetite
Pale skin
Poor hair condition
Poor memory
Prematurely greying hair
Prickly legs
Rapid heartbeat
Sensitivity to bright lights
Sore tongue
Split nails
Stomach pains
Teeth grinding
Tender muscles
Tender or sore muscles
Tension
Tingling hands
Vomiting
Water retention
It is recommended for individuals with MTHFR gene mutations to take 400 mcg of folic acid daily to support fertility and prevent fetal developmental defects.
MTHFR gene mutation symptoms continued…
Along with the B vitamins or B group vitamin deficiency symptoms. The MTHFR mutation may be defective and can also affect several other essential nutrients. All of which have their own set of symptoms these include:
Choline deficiency symptoms
Developmental abnormalities in newborn babies. High blood cholesterol and fat, fatty liver and nerve degeneration. high blood pressure, atherosclerosis and senile dementia. This can also lead to reduced resistance to infection and or lowered immunity.
Inositol deficiency symptoms
Irritability, insomnia, nervousness, hyper-excitability, reduction in nerve growth and regeneration. Low HDL level (increased risk of cardiovascular disease).
Amino Acid, Homocysteine & Symptoms of MTHFR
Amino acids are the building blocks of life, they are essential to good health. Those who have the MTHFR gene mutations can have complex problems that cause building block imbalances. Here are just some of the main building blocks that are affected by the mthfr mutation problem:
Methionine
This can be high or low in those with the genetic disorder. But it is one of the most important building blocks affected by the gene. This is because methionine is involved in and maintaining the homocysteine cycle. Symptoms of methionine imbalances can vary greatly. Some of the more concerning symptoms include cardiovascular disease, heart attack, stroke, inability to detoxify, inability to process and or use other important aminos. Also lowered immunity and chronic allergies.
Glycine deficiency symptoms
Low energy or fatigue, blood sugar imbalances, hypoglycemia, anemia, chronic fatigue syndrome, poor digestion, and seizures. Further manic bipolar, depression, cancer, mental health disorders, uric acid toxicity, phenolic & benzoic acid toxicity.
Common health conditions that result from MTHFR
Alcohol withdrawal seizure (muscle tension after alcohol withdrawal)
Autism
Increased risk of blood clots
Cardiovascular disease or Coronary artery disease: thromboembolism, heart disease, atherosclerosis, and myocardial infarction
Colorectal neoplasias
Common MTHFR anxiety disorder
Dementia and memory loss
Depression Anxiety and or Irritability
Developmental delays
Elevated or low homocysteine levels
Hypertension
High homocysteine levels or low homocysteine levels
Increased breast cancer risk (women >55 years of age)
Infertility & miscarriage
Methylenetetrahydrofolate reductase deficiency
Neural tube defects and other birth defects
Peripheral neuropathy
Reduced lean body mass and increased body fat
Stroke
And hundreds more health issues
Conditions related to MTHFR variants
There are many health conditions related to the MTHFR gene variants. This is because MTHFR gene variants can alter many important process in the body. The body uses to stay healthy. Methylation is extremely important because it is involves in the homocysteine cycle which essentially helps us stay healthy. When this cycle is interrupted by MTHFR gene variants there can be many symptoms or conditions as a result including imbalances in levels of homocysteine including high homocysteine levels and or low homocysteine levels. Problems can occur that result into two categories, one is called over-methylation and the other is considered under-methylation. People with the genetic disorder can experience symptoms from one or even both, these include:
Undermethylation Symptoms
ADD/ADHD
Addictive behavior
Allergic reactions
Aging
Anorexia
Alzheimer’s disease
Anxiety
Asthma
Autism
Bulimia
Cancer
Chronic degenerative diseases
Cardiovascular disease
Chronic fatigue
Cleft palate
Diabetes
Down’s syndrome
Delusions
Depression
Poor detoxification
Fibromyalgia
Headaches
Infertility
Joint stiffness, pain, swelling
Insomnia
Muscle pains
Neural tube defects
Low neurotransmitters
Obesity or weight gain
Obsessive-compulsive disease
Oppositional defiant disorder
Pain
Phobias
Psychosis
Schizophrenia
Recurrent pregnancy loss, miscarriage
Thyroid dysfunction
Over Methylation Symptoms
Headache
Rashes
Irritability
Increase in anxiety
Joint pain
Muscle pain
Insomnia
Depression (Maybe suicidal)
Nausea
Seizures
Vomiting
Stomach pain
Sweating
Rash
Hypokalemia
Palpitations
MTHFR symptoms & what to look for
Along with the symptoms above, there are several medical indicators that can indicate the possibility of having the MTHFR mutation. Here is a basic guide to look for clues based on common medical tests such as blood tests:
High levels of homocysteine in the blood
Low levels of folate and other vitamins
Elevated levels of methylmalonic acid (MMA) in the blood or urine
Abnormalities in blood clotting tests
Presence of neural tube defects, such as spina bifida or anencephaly
If you have any of these medical indicators, it’s essential to discuss them with your healthcare provider to determine the best course of action.
Along with the symptoms above, there are several medical indicators that can indicate the possibility of having the MTHFR mutation. Here is a basic guide to look for clues based on common medical tests such as blood tests:
When you do a blood test to check, do you have elevated red cell folate levels?
Is your serum B12 <500
Do you have chronic low white blood cell count (WCC), neutrophils, lymphocytes?
Do you have increased mean corpuscular volume (MCV) >90 (High red blood cell count)?
You have increased red blood cell distribution width (RDW) >13%?
Do you have low hemoglobin <140g/L for males or <135g/L for females?
You have elevated homocysteine levels? Levels over 7-8 µmol/L are considered high?
Do you have vitamin B12 deficiency symptoms despite a normal serum B12 count? Such as poor hair condition, eczema or dermatitis, mouth oversensitive to heat or cold. Irritability, anxiety, and tension. Further lack of energy, constipation, tender or sore muscles, pale skin? High homocysteine levels or Homocysteine levels over 12 indicate a B12 deficiency.
Do you have increased creatinine kinase?
MTHFR Infertility & miscarriages
One of the other indicators of having one or more of the MTHFR gene mutations is the inability to fall pregnant, mthfr mutations are often a big part of having a history of miscarriage or a family history of miscarriage.
Folate or folic acid plays a significant role in pregnancy and developmental problems, for those that have active MTHFR variants will often have an inability to properly use folate, a mutation may lower the conversion of folate to “active” folate. If you have been trying to fall pregnant unsuccessfully, if you have had one or more miscarriages or you have a history of miscarriages, get yourself tested for MTHFR.
Mental Illness & MTHFR gene variant
People with MTHFR mutations and or an MTHFR gene mutation have a greater chance of becoming mentally ill. This is because the brain requires optimal functioning of folate, all vitamin B groups, amino acids, essential fatty acids, and proper methylation to function properly. Those who experience any of the symptoms on this page related to mental health are strongly encouraged to test for the MTHFR gene mutation. Some of these symptoms include:
Depression
Anxiety
Mood swings
Bipolar disorder
ADD
common MTHFR A1298C mutations especially homozygous
ADHD
Suicidal thoughts
OCD
Obsessive-compulsive disorder
Oppositional defiant disorder
Learning difficulties
Addictive behavior
Schizophrenia
And other mental health problems
Chances of having MTHFR gene mutation
As mentioned above populations who have the MTHFR gene defect are over 50% generally. Some countries have higher rates than others which vary depending on ethnicity. If you can relate to any of the symptoms on this page you should get tested so that you know one way or the other, this is very important in preventing serious diseases.
Natural Ways to Manage MTHFR Symptoms
While there is no cure for MTHFR gene mutations, there are several natural ways to manage symptoms and reduce the risk of associated health conditions.
Lifestyle Adjustments and Supplements
Increase folate intake: Consuming foods rich in folate, such as dark leafy greens, beans, and fortified cereals, can help support methylation.
Take methylfolate supplements: Methylfolate is the bioavailable form of folate that can help your body absorb it more readily.
Maintain a healthy diet: Eating a balanced diet that includes plenty of fruits, vegetables, whole grains, and lean protein sources can help support overall health.
Exercise regularly: Regular physical activity can help reduce stress and improve overall health.
Manage stress: Engage in stress-reducing activities, such as meditation, yoga, or deep breathing exercises, to help manage stress.
Foods to Avoid with MTHFR Gene
While there is no specific diet for MTHFR gene mutations, avoiding certain foods can help reduce the risk of associated health conditions.
Dietary Considerations for MTHFR
Avoid foods high in folic acid: Folic acid is a synthetic form of folate that can be difficult for people with MTHFR gene mutations to process. Avoid foods that contain folic acid, such as enriched grains, pasta, cereals, and commercially produced flours.
Limit processed foods: Processed foods often contain high amounts of unhealthy fats, added sugars, and sodium, which can exacerbate MTHFR symptoms.
Avoid foods high in homocysteine: Foods high in homocysteine, such as meat and dairy products, can increase homocysteine levels in the blood.
Choose whole foods: Focus on whole, unprocessed foods, such as fruits, vegetables, whole grains, and lean protein sources, to support overall health.
Remember to consult with a healthcare professional before making any significant changes to your diet or lifestyle.
MTHFR Symptoms can be treated, we help resolve complex health problems everyday, consult with us now
Did you have any questions about the symptoms of MTHFR? Contact us here.
I’m so happy I consulted with MTHFR gene health, this is life saving work that I could not find anywhere else. Thank you.
D. Crawford – USA
This page is not designed to provide medical advice or diagnosis.
