Do you have MTHFR gene mutation symptoms?
The symptoms of MTHFR are to say the least very complicated, this is because MTHFR gene mutations 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.
The most obvious symptoms of MTHFR gene problems
Folate or folic acid deficiency is an obvious sign but it doesn't always appear as the first sign if you have the gene problem, often these symptoms are missed early on allowing other bigger problems to develop which we will explore on this page.
Folate or folic acid deficiency symptoms – Anaemia, eczema, cracked lips, prematurely greying hair, anxiety, tension, poor memory, lack of energy, poor appetite, stomach pains, depression.
Now, it's really important to understand at this point that when you have a folic acid or folate deficiency this will have an effect on ALL of your vitamin B groups and for each person with the gene mutation can appear differently depending on which gene mutation you have and how it affects you personally, here are the more obvious symptoms of vitamin B group imbalances:
- Acne
- Anaemia
- Anxiety
- Apathy
- Bleeding or tender gums
- Burning feet or tender heals
- Burning or gritty eyes
- Cataracts
- Constipation
- Cracked lips
- Depression
- Diarrhea
- Dry skin
- Dull or oily hair
- Eczema or dermatitis
- Exhaustion after light exercise
- Eye pains
- Flaky skin
- Headaches
- Inability to exercise
- Infrequent dream recall
- Insomnia
- Irritability
- Lack of energy
- Migraines
- Muscle cramps
- Muscle tremors [spasms]
- Nausea
- Nervousness
- Oversensitive mouth to heat or cold
- Pale skin
- Poor appetite
- Poor concentration
- Poor hair condition
- Poor memory
- Prematurely greying hair
- Prickly legs
- Rapid heart beat
- Sensitivity to bright lights
- Sore tongue
- Split nails
- Stomach pains
- Teeth grinding
- Tender muscles
- Tender or sore muscles
- Tension
- Tingling hands
- Vomiting
- Water retention
MTHFR gene mutation symptoms continued…
Along with the B group vitamin symptoms, the MTHFR gene defect can affect several other essential nutrients all of which have their own set of symptoms these include:
Choline deficiency symptoms – Developmental abnormalities in new born babies, high blood cholesterol and fat, fatty liver, nerve degeneration, high blood pressure, atherosclerosis, senile dementia, reduced resistance to infection 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 Acids & MTHFR symptoms
Amino acids are the building blocks of life, they are essential to good health, those who have the MTHFR gene have complex problems that cause amino acid imbalances, here are just some of the main amino acids that are affected by the gene problem:
Methionine – This can be high or low in those with the gene disorder but it is one of the most important amino acids affected by the gene, this is because methionine is involved in methylation 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 amino acids, lowered immunity, chronic allergies.
Glycine deficiency symptoms – Low energy or fatigue, blood sugar imbalances, hypoglycemia, anemia, chronic fatigue syndrome, poor digestion, seizures, manic bipolar depression, cancer, mental health disorders, uric acid toxicity, phenolic & bonzonic acid toxicity.
Common conditions that result from MTHFR symptoms
- 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
- Hypertension
- Increased breast cancer risk (women >55 years of age)
- Infertility & misscarrage
- Neural tube and other birth defects
- Peripheral neuropathy
- Reduced lean body mass and increased body fat
- Schizophrenia
- Stroke
Conditions related to MTHFR symptoms
There are many conditions related to the MTHFR gene mutations, this is because MTHFR genes alter an important process that the body needs to stay healthy which is called methylation. Methylation is extremely important because it involves the homocysteine cycle which essentially helps us stay healthy, when this cycle is interrupted by the MTHFR gene mutation the symptoms or conditions can be put into two categories called over-methylation or under-methylation. People with the gene disorder can experience symptoms from one or even both, these include:
Undermethylation Symptoms
- ADD/ADHD
- Addicitive behaviour
- Allergic reactions
- Ageing
- Anorexia
- Alzhelmer's disease
- Anxiety
- Asthma
- Autism
- Autoimmune disease
- Bipolar disorder
- 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
- Low neurotransmitters
- Obesity or weight gain
- Obsessive compulsive disease
- Oppositional defiant disorder
- Pain
- Phobias
- PCOS
- Psychosis
- Schizophrenia
- Recurrent pregnancy loss, miscarriage
- Thyroid dysfunction
Overmethylation Symptoms
- Headache
- Migraine
- Rashes
- Irritability
- Increase in anxiety
- Joint pain
- Muscle pain
- Insomnia
- Depression (May be 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 gene problem. Here is a basic guide to look for clues based on common medical tests such as blood tests:
- Do you have elevated red cell folate levels?
- Is your serum B12 <500
- Do you have chronic low white blood cell count (WCC), neutrophilis, lymphocytes?
- Do you have increased mean corpuscular volume (MCV) >90 (High red blood cell count)?
- Do you have increased red blood cell distribution width (RDW) >13%?
- Do you have low haemoglobin <140g/L for males or <135g/L for females?
- Do you have elevated homocysteine levels? Levels over 7-8 umol are considered high?
- Do you have vitamin B12 deficiency symptoms despite a normal serum B12 count such as 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. Homocysteine levels over 12 indicate B12 deficiency.
- Do you have increaed creatinine kinase?
MTHFR Infertility & miscarriages
One of the other indicators of having the MTHFR gene mutation is the inability to fall pregnant, a history of miscarriage or a family history of miscarriage. Folate or folic acid plays a significant role in pregnancy, developmental problems often result from the MTHFR gene because of an inability to use folate. If you have been trying to fall pregnant unsuccessfully, or you have had one or more miscarriages or you have a family history of miscarriages, get yourself tested for MTHFR.
Mental Illness & MTHFR symptoms
People with the 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.
Depression, anxiety, mood swings, bipolar disorder, ADD, ADHD, suicidal, obsessive compulsive disorder, oppositional defiant disorder, learning difficulties, addictive behaviour, schizophrenia
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