MTHFR MutationsMTHFR gene mutations can cause absolutely no symptoms at all.

They may also increase susceptibility to severe health conditions.

Research is still pending on which medical conditions are caused by, or at least partially attributed to, the MTHFR gene mutations.

I actually don’t think any of these are actually caused by MTHFR mutations.

I would rephrase that and state that the MTHFR mutation increases susceptibility to these conditions.

That’s a big difference.

From the partial list I recently went through on Medline, these are the current symptoms, syndromes and medical conditions relating to the MTHFR gene mutations:

I will continue to add to this list as I find new conditions and symptoms associated with MTHFR gene mutations.

Updated: June 29, 2019

Database: Genopedia in PHGKB.CDC.GOV
Download time: 06-29-2019
Number of disease terms: 654

Disease Term (followed by Number of Publications)

Hyperhomocysteinemia 287
Thrombophilia 220
Colorectal Neoplasms 169
Breast Neoplasms 117
Hypertension 112
Cardiovascular Diseases 106
Venous Thrombosis 103
Stroke 101
Coronary Artery Disease 91
Thrombosis 85
Diabetes Mellitus, Type 2 84
Abortion, Habitual 82
Brain Ischemia 77
Stomach Neoplasms 75
Neural Tube Defects 67
Schizophrenia 66
Folic Acid Deficiency 62
Arthritis, Rheumatoid 61
Pre-Eclampsia 58
Adenocarcinoma 55
Cleft Lip 55
Cleft Palate 55
Carcinoma, Squamous Cell 53
Down Syndrome 52
Alzheimer Disease 50
Lung Neoplasms 50
Cerebrovascular Accident 49
Coronary Disease 49
Heart Defects, Congenital 47
Esophageal Neoplasms 45
Myocardial Infarction 44
Kidney Failure, Chronic 41
Pregnancy Complications, Hematologic 39
Thromboembolism 37
Infertility, Male 36
Obesity 33
Disease Progression 33
Migraine Disorders 32
Abortion, Spontaneous 31
Uterine Cervical Neoplasms 31
Atherosclerosis 30
Diabetic Nephropathies 29
Recurrence 29
Retinal Vein Occlusion 29
Neoplasms 28
Metabolic Syndrome X 28
Cognition Disorders 28
Pregnancy Complications 25
Prostatic Neoplasms 24
Urinary Bladder Neoplasms 24
Ovarian Neoplasms 23
Liver Neoplasms 23
Colonic Neoplasms 23
Adenoma 22
Spinal Dysraphism 22
Vascular Diseases 21
Parkinson Disease 21
Pulmonary Embolism 20
Acute Disease 20
Carcinoma, Non-Small-Cell Lung 20
Vitamin B 12 Deficiency 20
Cerebrovascular Disorders 19
Cognition 19
Depressive Disorder 19
DNA Damage 19
Postoperative Complications 19
Psychiatric Status Rating Scales 19
Premature Birth 19
Inflammation 19
Leukemia, Lymphocytic, Acute 18
Neoplasm Recurrence, Local 18
Neuropsychological Tests 18
Head and Neck Neoplasms 18
Chronic Disease 18
Activated Protein C Resistance 18
Mouth Neoplasms 17
Migraine with Aura 16
Lymphoma, Non-Hodgkin 16
Intracranial Thrombosis 16
Arteriosclerosis 16
Bipolar Disorder 16
Glaucoma, Open-Angle 16
Diabetic Retinopathy 15
Depressive Disorder, Major 15
Anemia, Sickle Cell 15
Carcinoma 15
Liver Cirrhosis 15
Osteoporosis, Postmenopausal 15
Pancreatic Neoplasms 14
Neoplasm Metastasis 14
Alcoholism 14
Abruptio Placentae 14
Diabetes Mellitus 14
Epilepsy 14
Fetal Growth Retardation 13
Hearing Loss, Sudden 13
Behcet Syndrome 13
Aortic Aneurysm, Abdominal 13
Myocardial Ischemia 13
Pregnancy Complications, Cardiovascular 13
Polycystic Ovary Syndrome 13
Rectal Neoplasms 13
Psychotic Disorders 12
Osteoporosis 12
Inflammatory Bowel Diseases 12
Leukemia, Lymphocytic, Acute, L1 12
Infertility, Female 12
Birth Weight 12
Azoospermia 12
Cervical Intraepithelial Neoplasia 12
Graft vs Host Disease 12
Fractures, Bone 11
Hematologic Neoplasms 11
Diabetic Angiopathies 11
Insulin Resistance 11
Lymphatic Metastasis 11
Multiple Myeloma 11
Psoriasis 11
Peripheral Vascular Diseases 10
Neoplasm Invasiveness 10
Kidney Diseases 10
Leukemia 10
Hyperlipidemias 10
Colitis, Ulcerative 10
Fatty Liver 10
Hearing Loss, Sensorineural 10
Arterial Occlusive Diseases 10
Autistic Disorder 9
Carotid Artery Diseases 9
Carcinoma, Hepatocellular 9
Brain Neoplasms 9
Disease Susceptibility 9
Diabetes Complications 9
Dementia, Vascular 9
Oligospermia 9
Protein C Deficiency 9
Protein S Deficiency 9
Prenatal Exposure Delayed Effects 8
Schizophrenic Psychology 8
Papillomavirus Infections 8
Neutropenia 8
Hypercholesterolemia 8
Leukemia, Myelogenous, Chronic, BCR-ABL Positive 8
Multiple Sclerosis 8
Leukemia, Myeloid, Acute 8
Dementia 8
Heart Diseases 8
Hepatitis C, Chronic 8
Gastrointestinal Neoplasms 8
Blood Coagulation Disorders 8
Blood Coagulation Disorders, Inherited 8
beta-Thalassemia 8
Attention Deficit Disorder with Hyperactivity 7
Albuminuria 7
Cerebral Hemorrhage 7
Chromosome Aberrations 7
Cerebral Palsy 7
Femur Head Necrosis 7
HELLP Syndrome 7
Hematologic Diseases 7
Diabetes Mellitus, Type 1 7
Crohn Disease 7
Drug Toxicity 7
Dyslipidemias 7
Exfoliation Syndrome 7
Liver Diseases 7
Lymphoma 7
Metabolic Diseases 7
Micronuclei, Chromosome-Defective 7
Hypertension, Pregnancy-Induced 7
Hyperuricemia 7
Osteonecrosis 7
Syndrome 7
Thyroid Neoplasms 7
Turner Syndrome 6
Skin Neoplasms 6
Varicose Veins 6
Hypertrophy, Left Ventricular 6
Intracranial Hemorrhages 6
Kidney Neoplasms 6
Ischemia 6
Microsatellite Instability 6
Mucositis 6
Migraine without Aura 6
Meningioma 6
Meningomyelocele 6
Memory 6
Lupus Erythematosus, Systemic 6
Coronary Stenosis 6
Helicobacter Infections 6
Homocystinuria 6
Fetal Death 6
Fetal Diseases 6
Cerebral Infarction 6
Antiphospholipid Syndrome 6
Asthma 6
Child Development Disorders, Pervasive 5
Carcinoma, Ductal, Breast 5
Carcinoma, Transitional Cell 5
Glioma 5
Genomic Instability 5
Glaucoma 5
Glaucoma, Angle-Closure 5
Hemophilia A 5
Embryo Loss 5
Leukemia, Myeloid, Chronic 5
Infertility 5
Hip Fractures 5
Osteosarcoma 5
Sinus Thrombosis, Intracranial 5
Skin Diseases 5
Small Cell Lung Carcinoma 5
Retinal Artery Occlusion 5
Renal Insufficiency, Chronic 5
Precancerous Conditions 5
Psychomotor Performance 5
Spinal Fractures 5
Stress, Psychological 5
Thrombocytopenia 5
Stomatitis 4
Weight Gain 4
Overweight 4
Nervous System Diseases 4
Optic Neuropathy, Ischemic 4
Myelodysplastic Syndromes 4
HIV Infections 4
Hypersensitivity, Immediate 4
Ischemic Attack, Transient 4
Intracranial Aneurysm 4
Laryngeal Neoplasms 4
Lymphoproliferative Disorders 4
Lymphoma, Follicular 4
Lymphoma, Large B-Cell, Diffuse 4
Meningeal Neoplasms 4
Mental Retardation 4
Muscle Spasticity 4
Drug-Induced Liver Injury 4
Diabetic Neuropathies 4
Constriction, Pathologic 4
Coronary Restenosis 4
Colorectal Neoplasms, Hereditary Nonpolyposis 4
Hemorrhage 4
Body Weight 4
Bone Neoplasms 4
Central Nervous System Neoplasms 4
Carcinoma, Renal Cell 4
Carotid Stenosis 4
Celiac Disease 4
Attention 4
Anencephaly 4
Aneurysm, Dissecting 4
Amyotrophic Lateral Sclerosis 4
Anemia 3
Aneuploidy 3
Abnormalities 3
Abnormalities 3
Atrial Fibrillation 3
Avitaminosis 3
Bile Duct Neoplasms 3
Arthritis, Juvenile Rheumatoid 3
Cell Transformation, Neoplastic 3
Cataract 3
Cholangiocarcinoma 3
Choroidal Neovascularization 3
Brain Infarction 3
Brain Injuries 3
Carcinoma, Lobular 3
Hemolytic-Uremic Syndrome 3
Glioblastoma 3
Fetal Membranes, Premature Rupture 3
Foramen Ovale, Patent 3
Community-Acquired Infections 3
Congenital Abnormalities 3
Dermatitis, Atopic 3
Disease Models, Animal 3
Ductus Arteriosus, Patent 3
Eclampsia 3
Edema 3
Endometrial Neoplasms 3
Mood Disorders 3
Mental Disorders 3
Lymphoma, T-Cell 3
Malnutrition 3
Leukopenia 3
Liver Cirrhosis, Alcoholic 3
Leukemia, Myeloid 3
Hypoxia-Ischemia, Brain 3
Hyperlipoproteinemia Type II 3
Neoplasms, Second Primary 3
Neoplasms, Squamous Cell 3
Obstetric Labor, Premature 3
Osteoporotic Fractures 3
Nondisjunction, Genetic 3
Placenta Diseases 3
Personality Inventory 3
Proteinuria 3
Pneumonia 3
Seizures 3
Vitamin B Deficiency 3
Vitiligo 3
Vertebral Artery Dissection 3
Spondylitis, Ankylosing 3
Trisomy 3
Thromboangiitis Obliterans 2
Thrombocythemia, Essential 2
Subarachnoid Hemorrhage 2
Spinal Injuries 2
Venous Insufficiency 2
Urologic Neoplasms 2
Uterine Cervical Dysplasia 2
Wilms Tumor 2
Retinal Neoplasms 2
Purpura, Schoenlein-Henoch 2
Radiation Pneumonitis 2
Raynaud Disease 2
Retinoblastoma 2
Pleural Neoplasms 2
Primary Ovarian Insufficiency 2
Prostatic Hyperplasia 2
Puerperal Disorders 2
Pulmonary Disease, Chronic Obstructive 2
Personality Tests 2
Pharyngeal Neoplasms 2
Peripheral Arterial Disease 2
Peripheral Nervous System Diseases 2
Pancreatitis 2
Obesity, Abdominal 2
Neuroblastoma 2
Nephrosclerosis 2
Neoplasms, Glandular and Epithelial 2
Myeloproliferative Disorders 2
Hyperplasia 2
Hodgkin Disease 2
Hypertension, Pulmonary 2
Hypertriglyceridemia 2
Hypoplastic Left Heart Syndrome 2
Infection 2
Impotence, Vasculogenic 2
Leukemia, Myelocytic, Acute 2
Intracranial Arterial Diseases 2
Intelligence Tests 2
Limb Deformities, Congenital 2
Lipodystrophy 2
Leukoaraiosis 2
Macular Degeneration 2
Marijuana Abuse 2
Lymphoma, Large-Cell 2
Leukoencephalopathies 2
Mesenteric Vascular Occlusion 2
Mesothelioma 2
Moyamoya Disease 2
Muscle Hypotonia 2
Executive Function 2
Fatigue 2
Diarrhea 2
Developmental Disabilities 2
Diabetes, Gestational 2
Connective Tissue Diseases 2
Gastroschisis 2
Gaucher Disease 2
Gallbladder Neoplasms 2
Gastrointestinal Diseases 2
Gastrointestinal Hemorrhage 2
Glomerulonephritis, IGA 2
Graves Disease 2
Heart Septal Defects, Atrial 2
Heart Septal Defects, Ventricular 2
Fibrosis 2
Hearing Loss 2
Hepatic Vein Thrombosis 2
Hepatic Veno-Occlusive Disease 2
Hepatitis B 2
Huntington Disease 2
Calcinosis 2
Carcinoma, Large Cell 2
Carcinoma, Basal Cell 2
Bronchial Hyperreactivity 2
Budd-Chiari Syndrome 2
Bone Resorption 2
Cerebral Arterial Diseases 2
Choline Deficiency 2
Chorioamnionitis 2
Carcinoma, Small Cell 2
Carotid Artery, Internal, Dissection 2
Arthritis, Psoriatic 2
Astrocytoma 2
Anoxia 2
Aortic Valve Stenosis 2
Aortic Aneurysm 2
Arsenic Poisoning 2
Auditory Threshold 2
Adenomatous Polyps 2
Antithrombin III Deficiency 2
Anus, Imperforate 1
Anxiety Disorders 1
Aneurysm, Ruptured 1
Angina, Unstable 1
Anemia, Iron-Deficiency 1
Alcohol Withdrawal Seizures 1
Alcoholic Neuropathy 1
Alopecia Areata 1
alpha-Thalassemia 1
Adrenoleukodystrophy 1
Affective Disorders, Psychotic 1
Acute Lung Injury 1
Adenocarcinoma, Follicular 1
Adenocarcinoma, Mucinous 1
Abnormalities, Drug-Induced 1
Abnormalities, Multiple 1
Achievement 1
Acromegaly 1
Atrophy 1
Biliary Tract Neoplasms 1
Barrett Esophagus 1
Basal Ganglia Diseases 1
Blindness 1
Apnea 1
Aortic Coarctation 1
Aortic Rupture 1
Asphyxia Neonatorum 1
Asthenozoospermia 1
Arthritis, Reactive 1
Cerebellar Neoplasms 1
Chickenpox 1
Chromosome Deletion 1
Clubfoot 1
Cluster Headache 1
Coagulation Protein Disorders 1
Chondrosarcoma 1
Chromosomal Instability 1
Brain Damage, Chronic 1
Brain Diseases 1
Bone Diseases, Metabolic 1
Bone Marrow Diseases 1
Blood Platelet Disorders 1
Burkitt Lymphoma 1
Cadaver 1
Brain Stem Neoplasms 1
Bronchopulmonary Dysplasia 1
Carcinoma, Medullary 1
Carcinoma, Pancreatic Ductal 1
Cardiomyopathy, Hypertrophic 1
Cardiovascular Abnormalities 1
Hyperalgesia 1
Hyperbilirubinemia, Neonatal 1
Hepatitis, Chronic 1
Hepatitis, Toxic 1
Hepatolenticular Degeneration 1
Heredodegenerative Disorders, Nervous System 1
Hernia, Umbilical 1
Hepatitis C 1
Hepatitis 1
Hemostatic Disorders 1
Hemophilia B 1
Heart Septal Defects 1
Hemiplegia 1
Hemochromatosis 1
Hemoglobinopathies 1
Habituation, Psychophysiologic 1
Hashimoto Disease 1
Glomerulonephritis 1
Headache Disorders, Secondary 1
Glomerulosclerosis, Focal Segmental 1
Glucose Intolerance 1
Glucosephosphate Dehydrogenase Deficiency 1
Graft Occlusion, Vascular 1
Gastritis 1
Gastritis, Atrophic 1
Genital Diseases, Female 1
Forearm Injuries 1
Fractures, Compression 1
Fractures, Spontaneous 1
Fibromyalgia 1
Constipation 1
Coma 1
Cross Infection 1
Cryoglobulinemia 1
Data Display 1
Delayed Graft Function 1
Demyelinating Diseases 1
Depression, Postpartum 1
Coronary Thrombosis 1
Discrete Subaortic Stenosis 1
Diseases in Twins 1
Ehlers-Danlos Syndrome 1
Dyspnea 1
Drug Eruptions 1
Femoral Neck Fractures 1
Extraversion (Psychology) 1
Eye Diseases 1
Fallopian Tube Neoplasms 1
Endometriosis 1
Esophagitis, Peptic 1
Essential Tremor 1
Epilepsy, Post-Traumatic 1
Epistaxis 1
Equinus Deformity 1
Escherichia coli Infections 1
Esophageal and Gastric Varices 1
Musculoskeletal Diseases 1
Myasthenia Gravis 1
Multiple Sclerosis, Relapsing-Remitting 1
Multiple Organ Failure 1
Multiple Chemical Sensitivity 1
Motor Skills 1
Mouth Abnormalities 1
Microvascular Angina 1
Metabolism, Inborn Errors 1
Mitral Valve Prolapse 1
Mental Status Schedule 1
Mental Health 1
Mental Recall 1
Lymphoma, Large-Cell, Diffuse 1
Lymphoma, Lymphoblastic 1
Lymphoma, B-Cell 1
Maze Learning 1
Medulloblastoma 1
Memory Disorders 1
Meniere Disease 1
Marfan Syndrome 1
Leukoencephalitis, Acute Hemorrhagic 1
Leukemia, T-Cell, Acute 1
Lichen Planus, Oral 1
Liver Diseases, Alcoholic 1
Low Tension Glaucoma 1
Intermittent Claudication 1
Intestinal Atresia 1
Intracranial Arteriosclerosis 1
Intracranial Embolism 1
Intraoperative Complications 1
Lactose Intolerance 1
Kidney Failure 1
Leukemia, Lymphocytic, Acute, L2 1
Leukemia, Lymphocytic, Chronic 1
Leukemia, Lymphocytic, Chronic, B-Cell 1
Lead Poisoning 1
Learning 1
Leg Ulcer 1
Legg-Calve-Perthes Disease 1
Legg-Perthes Disease 1
Leukemia, B-Cell, Acute 1
Leukemia, B-Cell, Chronic 1
Leukemia, Lymphocytic 1
Infant, Newborn, Diseases 1
Infant, Premature, Diseases 1
Infarction, Anterior Cerebral Artery 1
Hypoxia, Brain 1
Immunologic Deficiency Syndromes 1
Hypertrophy, Right Ventricular 1
Hypoglycemia 1
Hypopituitarism 1
Hypertrophy 1
Hyperinsulinism 1
Hypertension, Renal 1
Hyperthyroidism 1
Hyperglycemia 1
Hypersensitivity 1
Myopia, Degenerative 1
Nasopharyngeal Neoplasms 1
Nausea 1
Necrosis 1
Neoplasms, Multiple Primary 1
Neoplasm, Residual 1
Nephrotic Syndrome 1
Nerve Degeneration 1
Nephritis 1
Nervous System Malformations 1
No-Reflow Phenomenon 1
Neurotoxicity Syndromes 1
Obesity, Morbid 1
Ocular Hypertension 1
Oral Ulcer 1
Orientation 1
Osteoarthritis 1
Pancreatitis, Chronic 1
Panuveitis 1
Pain 1
Pain Perception 1
Opisthorchiasis 1
Optic Atrophy, Hereditary, Leber 1
Paresis 1
Parkinsonian Disorders 1
Perception 1
Periodontitis 1
Phenylketonurias 1
Phlebitis 1
Plaque, Atherosclerotic 1
Pleasure 1
Peritoneal Neoplasms 1
Pulmonary Fibrosis 1
Pulmonary Valve Stenosis 1
Psychoses, Substance-Induced 1
Pseudarthrosis 1
Pseudotumor Cerebri 1
Pregnancy in Diabetics 1
Pregnancy, Ectopic 1
Psychoacoustics 1
Psychological Tests 1
Psychometrics 1
Psychomotor Disorders 1
Protein-Energy Malnutrition 1
Polycythemia 1
Polycythemia Vera 1
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 1
Rheumatic Heart Disease 1
Rhinitis, Allergic, Perennial 1
Rhinitis, Allergic, Seasonal 1
Retinal Diseases 1
Renal Artery Obstruction 1
Reaction Time 1
Purpura, Thrombotic Thrombocytopenic 1
Resilience, Psychological 1
Respiratory Distress Syndrome, Adult 1
Respiratory Sounds 1
Smith-Lemli-Opitz Syndrome 1
Somatoform Disorders 1
Spina Bifida Occulta 1
Sepsis 1
Sex Chromosome Aberrations 1
Shock, Septic 1
Schizotypal Personality Disorder 1
Scleroderma, Systemic 1
Wounds and Injuries 1
Weight Loss 1
Urogenital Abnormalities 1
Vaginosis, Bacterial 1
Varicocele 1
Virilism 1
Visual Perception 1
Verbal Learning 1
Vomiting 1
von Willebrand Diseases 1
Wechsler Scales 1
Wegener Granulomatosis 1
Splenomegaly 1
Stomatitis, Aphthous 1
Sleep 1
Sleep Apnea, Obstructive 1
Substance Withdrawal Syndrome 1
Systemic Inflammatory Response Syndrome 1
Temporomandibular Joint Disorders 1
Tension-Type Headache 1
Tetralogy of Fallot 1
Thrombasthenia 1
Thrombotic Microangiopathies 1
Thymus Hyperplasia 1
Thrombophlebitis 1
Tumor Virus Infections 1
Upper Extremity Deep Vein Thrombosis 1
Thyroiditis, Autoimmune 1
Tibial Fractures 1
Tooth Abnormalities 1
Trauma, Nervous System 1

This beats my original list:

  1. Autism
  2. Addictions: smoking, drugs, alcohol
  3. Down syndrome
  4. Miscarriages
  5. Pulmonary embolisms
  6. Depression in Post-Menopausal Women
  7. Schizophrenia
  8. Fibromyalgia
  9. Chronic Fatigue Syndrome
  10. Chemical Sensitivity
  11. Parkinson’s
  12. Irritable Bowel Syndrome
  13. Pre-eclampsia
  14. Stroke
  15. Spina bifida
  16. Esophageal Squamous cell carcinoma
  17. Acute Lymphoblastic Leukemia
  18. Vascular Dementia
  19. Bipolar disorder
  20. Colorectal Adenoma
  21. Idiopathic male infertility
  22. Blood clots
  23. Rectal cancer
  24. Meningioma
  25. Glioma
  26. Congenital Heart Defects
  27. Infant depression via epigenetic processes caused by maternal depression
  28. Deficits in childhood cognitive development
  29. Gastric Cancer
  30. Migraines with aura
  31. Low HDL
  32. High homocysteine
  33. Post-menopausal breast cancer
  34. Atherosclerosis
  35. Oral Clefts
  36. Type 1 Diabetes
  37. Epilepsy
  38. Primary Closed Angle Glaucoma
  39. Alzheimer’s
  40. Tetralogy of Fallot
  41. Decreased telomere length
  42. Potential drug toxicities: methotrexate, anti-epileptics
  43. Cervical dysplasia
  44. Increased bone fracture risk in post-menopausal women
  45. Multiple Sclerosis
  46. Essential Hypertension
  47. Differentiated Thyroid Carcinoma
  48. Prostate Cancer
  49. Premature Death (not associated)
  50. Placental Abruption
  51. Myocardial Infarction (Heart Attack)
  52. Methotrexate Toxicity
  53. Nitrous Oxide Toxicity
  54. Heart Murmurs
  55. Tight Anal Sphincters
  56. Tongue Tie
  57. Midline Defects (many are listed above)
  58. Behcet’s Disease
  59. Ischemic Stroke in Children
  60. Unexplained Neurologic Disease
  61. Asthma
  62. Shortness of Breath
  63. Bladder Cancer
  64. Anecephaly

Long Term Solution for your MTHFR Mutation

Now that you realize that despite doctors saying your MTHFR is not significant, it actually may be.

After all, researchers have identified a possible MTHFR connection in over 650 conditions!

It’s not just about one gene in your body causing issues. It’s about how your genes communicate with each other.

Who is in control of how your genes are working from moment to moment?

You are.

I’d really like to see you get on a full program vs just running about and scouring the internet for useful tidbits of information.

I know that can be useful at times – and it led you to here. Now I highly encourage you to stop browsing.

You found what you needed.

I’ve been studying, researching, treating and educating health professionals, medical associations and the public about MTHFR since 2011.

Reading my book, Dirty Genes, will help you immensely.

You’ll learn about MTHFR and how to use methylfolate in depth, yes, but you’ll learn WAY more than that.

Empower yourself and take action the right way.

Dirty Genes is the guide you’ve been looking for.

It continues to be a bestseller month after month for good reason.

Dirty Genes book by Dr. Ben Lynch

You’ll see why once you pick it up and start reading 😉

Don’t like reading books? Want to get more in depth and see how it all ties together?
Get access to the Dirty Genes Course where I discuss how food, lifestyle, environment, mindset and genetics are influencing how you’re feeling – and how to deal with it all.

The Dirty Genes Course is where I bring in a lot of published research, translate it and make it actionable for you. It’s an extension of the book, Dirty Genes. There is a lot of science, biochemistry and actual examples of how to use this stuff in your daily life.

Is it going to be over your head in terms of difficulty?

Absolutely not.

You’ll learn a ton and you’ll be amazed how easy it is to implement what you learn.

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10 years ago

I’ve been told by several people now to look into MTHFR gene testing for myself and my children. I have spina bifida occulta which wasn’t diagnosed until an X-ray done by a chiropractor when I was 19 or 20. It’s only on my lowest vertebrae, it doesn’t seem to affect me at all, it’s just weird. I’ve recently had some persistent vision issues that led a neurologist to think I had MS, but nothing showed on an MRI. She said I may be in the very early stages but there is no way to tell right now. My maternal grandmother has Parkinson’s. Mental health and addiction issues run in both sides of my family. Myself and others believe that my father and at least one of his brothers are on the Autism spectrum, and possibly their mother as well. I test extremely high for symptoms of Aspergers, higher than my cousin who is actually diagnosed with high functioning autism. My late grandfather had severe dementia. As for my children, my oldest daughter (7) has ADD and was born 6 weeks early. My second daughter (3) has severe asthma (diagnosed around 6 months old), severe silent reflux, Celiac disease, sleep apnea, multiple food and environmental allergies, eczema, and IgA and possibly IgG deficiency which we have been referred to a top pediatric hematologist to evaluate. My youngest (2) has just been diagnosed with Sensory Processing Disorder, severe silent reflux, and pancreatic elastase deficiency, after months of testing to figure out why she was “failure to thrive”. It would be great if there was some cause found that tied all this together, especially if there is a treatment, although I admit I’m a bit skeptical of anything like this. Would the hematologist be the one to ask about testing for this? At least he could test my 3 year old since she will be going to see him anyway, and we can start there.

7 years ago
Reply to  Erin

Hi Erin. I’m sorry to read of all the illnesses your family has suffered from. I can’t answer all of your questions but urge you to have an IBCLC assess your children for ties as these cause reflux and sleep apnoea, and are linked to food intolerances. Doctors won’t be able to help you as they are not trained to assess ties. You may like to go to and for more information. Please ask any IBCLC you consider hiring to give you a summary of their understanding of ties, particularly the posterior tongue tie. It’s worth knowing that ties and Spina bifida are associated with mthfr.

Katherine Bragdon
8 months ago
Reply to  Kim

My granddaughter was born with tongue tie also and I have MTHFR mutations I had my DNA done by 23&ME and then uploaded to Geneticgeniedotcom and they gave me quite a well done analysis. I give my report to my doctors and they now know what to test for. Taking supplements based on that report has improved my conditions.

6 years ago
Reply to  Erin

You are a very bright woman in spite of all your challenges! Could not help noticing that as I was reading this the correct spelling grammar and clarity of the writing especially hard when one is under such stress – It is one thing to find out about this MTHFR but just think of all the other genetic SNPS that are not even getting talked about yet – does help to hear that all these symptoms syndromes illnesses issues and especially addictions have real reasons beyond our control. I am just trying to assist 1 adult child with allergies(food and environ) asthma chronic sinus/ear/vertigo Diabetes Type 1 (no family history) Hashimoto’s Scoliosis Mouthbreather possible Mold Metal Lyme +EBV IgG deficiency (that treatment is daunting and expensive) what are we going to do if the government starts forcing more vaccines on babies??!! I fear for my future grandchild

Theresa Patterson
5 years ago
Reply to  susan

Hi things are expensive. Just start with a couple of things most important isgut flora & zinc. Give them daily vit D with early morning sun on their bodies to get immune system up & some vit c. The gut will sort a lot of problems. Don’t forget a healthy diet with some spinach or kale everyday. The gut flora i buy is on the shelf at coles & woolworths with 4 or 5 good strains

Katherine Bragdon
8 months ago
Reply to  susan

I have two grandchildren that have not had their vaccines know for a fact some mutations passed down to my granddaughter she was born with tongue tie.

6 years ago
Reply to  Erin

I would definitely look into vaccines if you haven’t already. Your kids are likely unable to detox the aluminium and other toxins in them.

10 years ago

Hello, My family physician strongly believes that I have a MTHFR mutation(s) and I am waiting on my raw data from 23 and me. Among the many serious conditions listed on Dr. Lynch’s list is one that on the surface appears trivial – tight anal sphincter. It can be serious to millions in the world with pelvic pain. Some five years ago I was diagnosed with contracted pelvic muscles, including the anal sphincter, and have been involved in a number of mind-body treatments. I just find it so interesting that it is on this list, as well as IBS. I am trying not to jump to the conclusion that my pelvic pain is caused by a MTHFR mutation. How can I find out more information on this condition and how it may be caused by a MTHFR mutation? Thank you. Sharon

10 years ago
Reply to  Dr. Ben Lynch

Dr. Lynch, Interesting. I have been thinking of late that it could be a structural problem since I eat well, exercise and take extra fiber. Constipation appears to run in my family since a few members have mentioned it to me in recent years. So perhaps there is a gene mutation. Speculating further, perhaps contracted pelvic muscles in general is associated with a gene mutation. I would appreciate any reserach or information you come across. This journey I am on with the MTHFR mutation and DNA testing came out of left field but it has been very interesting so far. Thank you. Sharon

[…] the MTHFR bloodwork done to confirm. I’m so glad I did and know for sure I have it because MTHFR can cause a lot of scary things like miscarriages, infertility, down syndrome, autism, depression, spina-bifida, irritable bowel […]

[…] this got me thinking about types 1 and 2 diabetes and whether MTHFR is a cause. As with many of the MTHFR-associated illnesses, this gets a little complicated. While MTHFR gene mutations do not directly cause diabetes, […]

[…] steps that can be taken to bypass the problem. To see a list of conditions MTHFR can cause visit MTHFR,net   The test will reveal how well your body detoxifies and how susceptible it is to oxidative […]

10 years ago

I am seventy years old and have been suffering from fibromyalgia, hypothyroidism, and another two or three things on your list. If I were to find a doctor who could detect that I have MTHFR, what can be done to help relieve the problems? Thank you very much.

[…] try to keep on keepin on until then I suppose. Oh and if anyone reading this knows anything about MTHFR and vaccines, please get in touch with me. That’s all I am going to say about that […]

[…] fun tidbit I learned while discussing MTHFR with the kid’s doctor, was the whole midline issues, and things like the “tongue-tied” or “tongue thrusting” […]

10 years ago

In your copious spare time 🙂 I wonder if it would be worth getting a Bastyr student or someone to organize the list of conditions by organ system. I’m still getting my feet wet with studying this material, but that might help folks make more sense of the list, in a less monolithic way, especially as the list continues to be updated.

Thanks for organizing all the information here!
Dr. Deborah

10 years ago

Is there any information about the TCN2 gene defect on this website? I have a homozygous mutation (GG). How common is this? What problems does it cause and what is the solution? My MTHFR is 677T/677C. Thanks.

10 years ago

I spoke to my daughter’s hematologist about this site. He is one of the top in his field and has personally done extensive research on MTHFR gene mutations. He says the claims made here are not backed by science. Apparently there has been no conclusive evidence that any of these conditions are linked to these mutations, and that the recommended treatments do not work. His team found ONE boy with autism whose symptoms could possibly have been linked, but treatments did nothing.

10 years ago
Reply to  Erin

My son became extremely ill and almost died due to toxin exposure. He’s had several of the symptoms listed here — neurological and pulmonary. In the course of getting him treated, we found out he was compound heterozygous. I also have 2 kids with midline defects, and a niece with a midline defect (split uterus). Knowing that I carried one of the defective MTHFR genes, my son’s doctor urged I get tested. When I contact local geneticists, they expressed the “current thinking” regarding MTHFR — that it wasn’t much of a big deal. I replied I couldn’t disagree more, since my son almost died due to having this defect with toxin exposure. He’s also at risk for blood clots with this condition. Why wouldn’t we want to know and treat this? I don’t know why, but some doctors are highly opinionated and since they already know it all, they can’t learn much new. My son is being treated and takes methyl B supplements, and he is definitely doing better. I’ve shared the MTHFR information with parents of autistic kids in my community and they’re EXCITED to learn this and will be following up for their kid’s sake. We live in a world of toxins — many of them pushed on the public by Monsanto and Big Pharma. It’s no surprise more people are getting sick — especially those with severe MTHFR mutations. We’re enjoying better health as a result of this info.

7 years ago
Reply to  Lindy

Hi lindy I’m reading your response on mthfr gene. My son matthew was diagnosed with autism 2 years ago. My toddler nearly died from a vaccine at 9 months. We never knew about toxins..about vaccine injury
.about gene mutation

.storks bite…none of it. I was tagged in a post on face book and now have more worries on top of my worries. Please let me know what you have done to help your son.

Astrid Ferreira
South Africa

6 years ago
Reply to  Lindy

I know this was three years ago but if you happen to get back on I would love to speak with you. It sounds like you are well versed and know all about this stuff. I am lost and confused about it all. It is a lot to take in and figure out!

5 years ago
Reply to  Lindy

I have compound hetero as well. I found out after miscarriage # 3 of 5. My gyno took 17 vials of blood and found it. Autism is deffinantly a truth. I have aspergers.
My aunt passed away from spina bifida
And my half sister from leukemia.

10 years ago

Oh — by the way I canceled the appointment with that geneticist. Why pay and travel 60 miles to argue with yet another arrogant, stubborn doctor? I would have had to make a second visit just to find out the results (that is IF the doctor tested the MTHFR gene — but he probably would have ignored all the other methylation genes which would have been a mistake). In fact, when my son was sick we saw one IDIOT (called a neurologist) who wanted to do brain surgery for toxin exposure! (we dumped him immediately and my son felt like punching the guy!) I spared myself the aggravation and paid $99 for testing at and used Sterling’s app to find information on the methylation genes. And it’s much more fun, too, since I learned about ancestry and lost relatives.

10 years ago

I had 4 PE and I’m only 31 years old and I have 2 kids when I was pregnant I was diagnosticated with the MTHFR and my older son too, he’s only 10 yrs old. My question is He could develop clots at early age? He need treatment now? I been in Coumadin since I was 17. Please I need advice.

7 years ago
Reply to  Lillian

I realize that you asked this question 3 years ago, but have you been tested for Factor V (pronounced 5) Leiden? I am heterozygous for that

Amanda Joy
10 years ago

I am confused, in reading this list I do not see Hashimotos, Hypothyroidism, or Autoimmune disease. I belong to a Hashimoto’s Facebook group where MTHFR is spoke of a lot. I was tested because of the recommendations from there as the MASS majority of people that have been tested are + for MTHFR. As it turns out I have the very rare triple mutation as well as many more mutations. I sent my family information about all this but then noticed that there is no mention of these conditions on this list. Is there not a link?

10 years ago
Reply to  Amanda Joy

I had asked Dr. Ben about the hypothyroidism connection previously. This was his reply to me at

“MTHFR is related to thyroid disorders because of BH4.

Methylfolate is needed to produce biopterin which is needed to convert tyrosine into active neurotransmitters and thyroid hormones.

This is the connection.”

Maureen Healy
10 years ago

Have you looked at FSHD ( as also having a link to mthfr? Thanks, Maureen

10 years ago

My 18 year old daughter was just diagnoses with the C677T mutation. I will be tested in a few weeks as we have generations of thyroid issues. My daughter has been on depression medications for 1.5 yrs and none have worked more than a few weeks so doctors are getting really tired of me showing up on their doorsteps to try something new. She has been suicidal, done partial hospitalization and no one could really find anything wrong with her but possibly borderline personality disorder.

Her psychologist kept saying that she believes my daughter had a thyroid issues especially considering our family history. We went to a nurse practitioner who looks out side the box. She asked if we could test for MTHFR and I decided $82 was a small sacrifice compared to the thousands of dollars spent to no avail. She called 2 days ago and said she has the mutation. Wow, finally something that could be contributing to this depression that no medication seems to touch. She said she should start feeling better within days.

Of course, with all these medications, sleeping 24 hours a day when possible, she has gained about 50 pounds in the past 2 years even when she barely ate a thing all day. Her TSH numbers were above 3 but no one around here will treat someone with those numbers. My numbers are 3-5 on every test and no one will treat me either. It’s considered normal but I feel nearly as bad as my daughter does.

Her biggest concern is whether she will begin to be able to lose weight now that she is taking Deplin and NAC along with Vitamin D, Iron as she is anemic and B12. I have walked 100 miles in a month, stuck to Weight Watchers 100% and unable to lose even one pound. She doesn’t have the energy to even try to exercise. Can she expect to be able to begin losing weight with these medications and supplements?

10 years ago
Reply to  Connie

Hi Connie

As a fellow hypothyroid sufferer myself (and very extreme hypo), your daughter’s symptoms are consistent her being severely under-medicated. In my own experience, TSH is very unreliable, and if her doctor isn’t looking at THYROID hormones, including Free T3, Free T4, he is doing a poor job. Seriously consider finding a better thyroid doctor and educating yourself more — Mary Shomon has a website. I have been severely under-medicated and made ill in the past by doctors relying solely on TSH (a pituitary hormone) while ignoring my thyroid hormone levels. It’s shocking your daughter is sleeping 24 hours, gaining weight, hardly eating and her thyroid doctor is clueless. I’ve been there myself — wanting to sleep all the time, HORRIBLY tired, taking a few bites of food a day and gaining weight. Food tasted like cardboard. These are symptoms of EXTREME HYPO. EXTREME HYPO is not compatible with life. Seriously — find a COMPETENT thyroid doctor who knows what they’re doing. EXTREME HYPO can kill, left untreated or under-treated. Go to Mary Shomon’s website, do some homework and find a doctor who can recognize the clinical symptoms of extreme hypothyroidism — not just the TSH. It’s so STUPID when these doctors rely on TSH only.

10 years ago
Reply to  Connie

I am the exact same as what you have described and always felt it was related to my thyroid. I have the double error on the A1298C. Was prescribed Deplin and exactly as how Dr Lynch has said and described over and over on this site, the Deplin was way too high of a dose of methylated folic acid. Taking Deplin is, in essence, like taking antidepressants and add to that the possibility of having COMT, MAO, VDR. or CBS errors, you can have any array of horrible side effects from the high amount of methylated folic acid that Deplin is. I tried quartering the 7.5mg tab (ps, they are switching to capsules only so you wont be able to cut doses) and that wasn’t even good enough. I had to stop taking it—-too much irritability/agitation and muscle pain it was causing. I also have tried most antidepressants and everything made it worse except for one that only influenced Dopamine. I always knew there was something to that and come to find out, because of my genetic makeup, I have low levels of dopamine. PS, most Psychologists/Psychiatrists only know the basics about Deplin which is only what the manufacturer’s marketing info is. If you look it up, Deplin is marketed as a supplement to help your antidepressant be more effective; in reality, it is working like one because your body is now ramping up on making serotonin, norepinephrine and dopamine with it. I believe they are marketing it so simply because then they do not have to do all the studies on it that they would if they really explained how it works.

Karla Morris
10 years ago
Reply to  Connie

I apologize for replying to your post; was not sure how to ask a question. My question is; would a dx of homozygous c677t cause me to have an elevated MCV count? Even though tests show that my homocystein levels are normal and that I have no vitamin deficiencies would my mutation cause a really high MCV count? And, would I have other symptoms/conditions relating to this mutation, such as chronic fatigue, even though my homocystien levels are normal?

9 years ago
Reply to  Connie

Now that it’s been a few weeks since I posted, I wanted to update. My daughter started taking Deplin 15 mg and NAC (600 mg twice a day) and the change in her is amazing! She is still tired but her mind was clear within 2 days of taking Deplin.

She is still gaining weight but from my reading, it’s the antidepressants which have contributed to the weight gain. We are weaning off of 40 mg of Lexapro and 15 mg of Abilify. so far, she is handling the lower doses of 10 mg of Lexapro and 10 mg of Abilify just fine. We will continue to lower the doses over the summer.

By the way, I have the genetic mutation as well and I’m having my husband tested. As I have never had depression, I only take NAC twice a day. I did have several miscarriages years ago but other than that, I don’t have the significant symptoms that my daughter has experienced. I am also taking Armour for my thyroid as my test results indicated that I needed to be medicated. I’m only on 15 mg and have notice no differences so far.

Anyway, just wanted to update the great results we are getting.

9 years ago
Reply to  Dr. Ben Lynch

Thanks for your response. She has been on Deplin since April 26th and every day there is a noticeable improvement. She is currently taking B12, Iron, Deplin, Vit D3 along with 10mg of Lexapro and 15 mg of Abilify. I am not trying to wean her off of 40 mg/day of busperone as anxiety was what started the downfall in the first place.

We are working hard to eliminate folic acid as much as possible. The only thing she has noticed is when I tried to reduce Abilify to 10 mg, she was shaky. Laura Dankof of Mercy Hospital Des Moines is the nurse practitioner who is seeing her. Check out her blog and you can read my daughter’s story and other helpful heath information.

Laura did extensive testing to see what deficiencies my daughter suffered from, which vitamins and minerals she was lacking. I feel very confident that I have my daughter back for good now and even better than before!

I also have the mutation but have only suffered some miscarriages in the past. I am only taking vit D3, B12, iron and NAC and my thyroid issues that no one locally would treat despite my high numbers (they were going with the pre-2003 standards of TSH of 5 or above), are being treated with Armour. she started with 15 mg which I’m sure will not be sufficient to correct my thyroid issues but she said we will recheck in 8 weeks to see.

The information on this site has been so helpful. I never dreamed my daughter would literally wake up just a couple of days after barely being able to make it through an hour of school a day.

7 years ago
Reply to  Dr. Ben Lynch

What’s the connection with dairy? My daughter is taking 7.5 mg of Deplin, a B12 chewable and her daily vitamins. She sometimes gets an upset stomach with dairy, but I hadn’t connected the MTHFR mutation with the dairy yet.

7 years ago
Reply to  Connie

It’s the Abilify that’s making your daughter gain weight. Find a different medication to treat her, if possible.

7 years ago
Reply to  Stefanie

My son gained 30 # in just a few months on Abilify. when he went off Abilify he lost the weight immediately. That medication is know for causing metabolic syndrome.

9 years ago

Hi! I am compound heterozygous and learning a lot about how my mental illness, chronic pain and dystonia is related to MTHFR mutation. I have started taking supplements and have noticed great improvement in chronic pain and mental health and have come off of 3 of 5 medications I take to manage symptoms and hope to come off all medications soon. I have reached out to he Lyme community (I also have Lyme disease which is the only reason I tested for MTHFR) and many of them have a lot of problems with food allergies which I believe comes from an autoimmune disorder bc they have severely limited their diet. Would the MTHFR mutation have anything to do with food allergies?

Melissa Sliva
9 years ago

What about a connection between MTHFR mutation and low cortisol?

[…] See the list of conditions associated with MTHFR here. […]

[…] And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions. […]

9 years ago

I started taking the Seeking Health Optimal Multivitamin Capsules 5 days ago & am now having an interstitial cystitis flare up. I had this often as a kid, but rarely as an adult. I was diagnosed with Lyme Disease 4 yrs & figured the 2 were related.

I have been taking MTHFR supplements on & off for several years depending on finances, but this is the first time that IC symptoms have appeared.

I’m wondering if you have any ideas about how the Optimal Multivitamin might be related to this. Apparently, increased histamines can be a factor in IC, but aren’t the supplements supposed to decrease histamines?

Any suggestions?

9 years ago

Dr. Ben~

I’ve been tested and found to have a mutation (MTHFR). As I’m reading about many other women diagnosed with this mutation, I relate to the numerous miscarriages they have mentioned experiencing. I’m coming to the understanding that having a child is most likely not an option, but possibly adopting would be.
I do have a concern that I wonder if anyone else can relate to, as I have not read anyone mention these weird symptoms I have when I have been pregnant. Early in my pregnancy my skin feels very dry, like I need to moisturize the heck out of my skin. Also, I get more thirsty, even though I’m still drinking plenty of water, which is mostly what I drink all the time. And, I notice that I have more headaches coming on, when I normally don’t have any. I do take 5mg of L-5-MTHFR every other day, and a multi-vitamin everyday.
Only reason I’m reaching out to ask anyone about this is because the few doctors that I have seen do not seem very helpful or knowledgeable, which is really frustrating. I just don’t know what else to do.

Thanks for any and all help you or your readers can provide!

stephanie A
9 years ago

Hello Dr Ben….

I have an exstensive medical problems since 2001.. I was hospitalized with lyme for a week and treated just for one week with IV. Four months later I wad diagnosed with Multiple Sclerosis . I have every symptom associated with MS. Three years after that I was also diagnosed with lupus. I am having fertility problems also. Now I fjnd out I have both gene mutation.. can having MTFHR ex one of thoes diagnosis out? Or can I have all of them? At this point if whatever is not found and treated I feel I will die. Where do I go to get a ful body and blood check? Iam in the US . I take copaxon 40 mg 3x a week, nuroten 1200mg daily, plaquinel 400mg daily, meloxicam 7.5 daily, xanx 1mg daily, baclofen 10mg daily, captopril 25mg twice daily, and tramidol 50 mg as needed. I cant take any more I am in my late twentys.. please what do I do.,

7 years ago
Reply to  stephanie A

Stephanie, I realize this is a very old post….
By now I am hoping that you have found a Lyme Dr to treat you for the Lyme. Classic MS then Lupus diagnosis when Lyme becomes chronic and left untreated!!

Ruth Peterson
9 years ago

Have any links between MTHFR and ADHD or Autism been found? My son, 7, has ADHD, anxiety, is on the Autism Spectrum. My daughter, 5, is ADHD, sensory issues and developmental delays. We are still working on diagnosing her. Both have a MTHFR mutation and some other things. My son has a 7q35 microdeletion, but my daughter was never tested. Thanks-

5 years ago
Reply to  Ruth Peterson

I have heard that the mthfr and the inability to process metals, as caused autism in children that received a large amount of shots at once in their first two years. Kids who seemed perfectly find before the shot, changed after…..

christine mcgrath
9 years ago

Hi Dr. Ben, I have Dercum’s disease. There is a long list of painful symptoms associated with it, however,I have not really been properly tested for other diagnosesis. It is beleived that my 10 year old has a slow growing glioma in the thalamus and there is also a question of chiari 0-1 for her and my 7 year old. My 16 year old has had past episodes of what we believe was angiodema. Both girls, 10 and 16, as well as myself get migraines. We each get different types of migraines. My side of the family from grandmother down has: vascular and heart disease, diabetes, lupus, krohns, irritable bowel, inter cystal cystitis, disc and nerve problems. It is like the typhoid Mary gene gone wild that adapts itself so it can hide all kinds of things. My family and i can’t get the proper help we need.

[…] And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions. […]

9 years ago

Hi, I was just diagnosed with heterozygous MTHFR c677t. I had a dvt/ pulmonary embolism this past feb.. For no apparent reason and no risk factors- I’m 27). I had my hematologist test me last week for MTHFR among other disorders that may cause clots. I’m very confused and a little upset today when my doctor called to give me the results.

He said having heterozygous MTHFR means absolutely nothing (medically irrelevant) as he said in terms of the mutation ever causing me symptoms or clots or even any deficiency. He said I’d have to have two copies of the gene mutation or be homozygous to be considered a health condition. I was all ready to buy methyl folate supplements in hopes it would help my body with the mutation since I experience many odd symptoms my whole life like fast heart rate, migraines, severe anxiety, losing hair, stomach issues, tiredness, allergies, etc. Is it true then that because I only have the ONE copy of MTHFR mutation- that I will have no symptoms or related conditions? Here I thought it was possibly my answer to my health being the way it is but the doctor said no- no relation. And doctor also said no supplementation needed since my homocystine levels have been normal (8.8).

I would think if a gene had a defect that it would somehow effect the body somehow- whether mildly or moderately? Am I totally wrong? So should I still take the supplement or no?

7 years ago
Reply to  Sabrina

I just finished watching a 9 day series called The Thyroid Secret by Dr. Isabella Wentz Many of the symptoms you describe sound like symptoms of thyroid disease.
Many of the people in the series did not find relief from conventional doctors but in looking for a doctor they found what is called a Functional doctor that was able to help and recovered their lives through the Autoimmune Paleo diet, supplementation, exercise, and some prescribed medication. She has written two books on Thyroid disease. Just google her or look her up on Facebook.

9 years ago

The article linked next to #49, “Premature Death”, indicates that the associated study found that a MTHFR mutation was *not* associated with premature death:

“This finding does not suggest that the C677T/MTHFR mutation is a strong risk factor for diseases frequently leading to premature death.”

Al C.
7 years ago
Reply to  Dr. Ben Lynch

Dr. Ben, would you please link this to a study which DOES support your contention that MTHFR can lead to premature death?

Susan Rogers
9 years ago

Dr lynch
I have struggled for the past 10 years thinking I was going a little crazy. I was tired all the time. I recently found out that I have the c667t and the a 1298c mutation. My endocrinologist was participating in a gene study to better determine how the medications that were prescribed were being utilized by the body. Needless today I was shocked to see the results. Looking at the list and reading about this mutation and how it affects the body has literally changed my life. At first I I just couldn’t believe that all the complaints that I had been having could have been so easily overlooked and ultimately treated easily. I have spoken to my doctors and have been very disappointed by there lack of interest or knowledge, not really sure. I’ve been diagnosed with hypothyroidism, pcos – even though I have normal testosterone levels, have no hurstism, and normal ovaries. I am insulin resistant and about 45 lbs overweight even though I have tried everything to lose the wieght. Thank you for giving such a informative site and a protocol to follow. My question to you is. I have started to take a folate and b complex ( the correct form) listed by you and added niacin. I am currently on metformin and am trying to wean off due to the negative side effects. Will I need to increase or decrease my supplements. I started with 3 mg of folate but cut back to 1 mg after I started having some negative side effects

Beverly Padnuk
9 years ago

Dr. Ben, My 34 year old adopted daughter just found out that both of her parents have the MTHFR genes and she now had been diagnosed with it. She has been unable to find a doctor in her area that specializes in this. She does not have insurance which also complicates the problem. She has been sick for several years with problems that all testing came back normal until she found out she has the MTHFR. She is unable to function in daily tasks. All she has the energy to do is sleep. She lacks any emotions and feels depressed and stressed out to the max. What can I do for her? She lives in Pittsburgh, PA Do you know of any doctors in that area that could help her? She keeps telling me that no one knows about how to treat it. I live in Florida so I am not able to be there to physically help her. I am at a loss.

[…] leading to high levels of homocysteine. According to Dr. Ben Lynch, impaired function of the enzyme can cause or contribute to conditions such as Autism, Chronic Fatigue Syndrome, Fibromyalgia, Miscarriages, IBS, many birth defects, […]

9 years ago

I am homozygous for the MTHFR 667T mutation [I found out in relation to genetic testing after recurrent miscarriage] but my homocysteine levels are fine. Should I assume my mutation is not causing me problems or should I look at something else? My main issues are anxiety, insomnia, and general fatigue. My Dr. is happy to prescribe antidepressants but I don’t think that’s it.


[…] that’s just 8 of about 64. In order to cope with this mutation you have to alter your diet and take special vitamins to […]

9 years ago

Hello Dr. Lynch,
I would like to schedule a consult with you regarding a genetic mutation in our daughter. Please advise how I may go about this. Your work is inspiring and I look forward to your insight into our healing journey.

9 years ago

Well I’m getting this test tomorow. I see the list of conditions that follow is pretty depressing. I would have lived a lot better if I never knew of this. I avoid wheat and dairy products I’m 26 and felt a million times better when I smoked ciggeretes and ate junk now I can look forward to getting a disease from this. Isn’t that something

Karen Nichols
9 years ago

Thanks for reading my question! My son has MTHFR mutations on 677 and 1298 ( one each) and has struggled with severe seizures for 5 years. He is now 10 years old. Recently, we found he has VERY high folate receptor antibodies ( 5.5 pmol) and likely has cerebral folate deficiency ( have not yet done a lumber puncture to determine, but not sure we need to). I am giving leucovorin to see if it might help. We are now at 50-60 mg/day and it is not helping very much ( he is getting mentally foggier and we are seeing more subclincal seizure activity). I wonder if he needs methyl-folate rather than follinic acid due to his MTHFR issues ? We do give MB12 1x/week, but I wonder if we need to add any other supplements to help with this. Any other testing you might recommend? Thanks again

[…] was also diagnosed with having the double MTHFR mutation (read more about it here).  This mutation is extremely common among those of us suffering from autoimmune disease and Lyme. […]

9 years ago

Thank you for the brilliant work you do and for sharing it so freely!.
Just found out I am one of those with 70% less methylation which may account for the rare progressive demyelinating disease I have for which there is no known cause or cure until now of course! TY, TY ,TY!

9 years ago

My mom had Parkinson’s and now my brother has MSA (like parkinson’s but…). I have discovered have the A1298C with one copy. I have a number of problems but I am at the monent wondering is it possible that my brother with MSA has this gene issue and is the cause of MSA? I have shared the gene issue and he will be sharing it with his doctor.

9 years ago

I have mutated MFTHR gene and had a baby who suffered an in uterine stroke. He has the same mutated gene. Would this cause the stroke?

9 years ago

My psychiatrist of 8 years, has ordered the MTHFR test today. In 2006, he recommended using supplemental Folic acid of at least 80mcg/day. i am not sure of the reason, though I believe that chronic inflammation (idiopathic), significantly decreased energy levels despite various medical interventions. My neurologist put me through the ringer of numerous blood tests, at least 30-40, attempting to discover underlying causes of generalized, chronic inflammation, and nerve pain involving my entire body and bodily functions. To date, the only lab test with abnormal results, was an elevated B1 level. Other diagnostics revealed small fiber neuropathy (idiopathic at this stage)
My question is if i test positive for this mutation, which my doctor believes i will due to an unsuccessful trial of L-Methylfolate, does this in any way correlate with my recent diagnosis of small fiber neuropathy confirmed with skin biopsy?

9 years ago
Reply to  Madeleine

Madeline, Hi. there are diseases such as Dercum’s disease that describe a lot of your symptoms and won’t show up on normal labs that typical Dr.’s would order. What’s more is that it is believed that Dercum’s disease is a combo of more than 1 mutation which is why it has not yet been identified genetically. Those DD patients who have completed the 23 and me tests all show abnormalities. Hope this helps.

9 years ago
Reply to  christine

Thank you Christine, for you response. I did test positive for MTHFR homozygous C677T. Began Seeking Health protocol recommended by my doctor. Has been significant improvement in small fiber neuropathy, though finding little improvement with other symptoms/issues. All this info. has been a bit overwhelming. Have made numerous environmental and dietary changes as well. Will continue to self educate and improve my health. There does not seem to be any doctors in my area with even the basic knowledge of MTHFR.

I know little regarding Dercum’s Disease, but I will check, in reference to C677T. And I will find out more information about the 23andMe tests. Again, thanks for your response.

9 years ago
Reply to  Madeleine

Hello Christine, I had the chance last night to review Dercum’s Disease. It appears likely that I may I’ve DD. The symptoms I first listed here are all there, plus the mainly that I did not list…like painful, localized, areas of fat, with small painful nodules. These areas have a different laxicity than other areas. Also have had both this, painful lipomas in same areas, as well as other symptoms for as long as I can remember. Thanks for the info. I have been working with a neurologist for just over a year. He has done all the testing to rule everything else out. I will bring this info with articles from Dercum’s Society website, and the Patient Handbook also available from The Dercum’s Society website. Once again, thank for your interest, response and insight.. Do you thunk I still require additional genetic testing?

9 years ago
Reply to  Madeleine

Madeleine, I do wish you the absolute best. There are many online support groups that are beneficial…..there are also treating Dr lists on some of the sites but take that with a grain of salt…..also you should really look at FDRS (fat disorders research society website) but more importantly Dr Karen Herbst page at and try to schedule an appt with her to confirm diagnosis – she treats 4 rare/ adipose tissue diseases and is booked months in advance. Most of us who are not diagnosed by her are usually diagnosed by dermatologists or radiologists. I have tried repeatedly to get genetic testing for myself personally as well as for my kids but… no avail! They are not interested in us, there are not enough of us for them to take us seriously. Most testing won’t help us…it is not designed to see what is going on with us b/c we are….not standard.

This site has some of the most accurate and up to date info about DD. Hope this helps you in some way or another.

9 years ago

I just visited to order the tests and here is what’s listed as of November 2013:

“We no longer offer our health-related genetic reports to new customers to comply with the U.S. Food and Drug Administration’s directive to discontinue new consumer access during our regulatory review process.

At this time, we do not know the timeline as to which health reports might be available in the future or when they might be available. ”

Do you recommend any other labs for these tests?


9 years ago

What about a link to autoimmune diseases? I have hashimotos and have read that 40-50% of prople with hashimotos have the MTHFR gene mutation. This fact prompted me to get tested. I now know I am heterozygous MTHFR c677t.

9 years ago


I recently found out that I have the heterozygous form of MTHFR. My doctor decided to order this lab on me after experiencing symptoms of numbness and heaviness to my left side. I have had numerous tests done (brain and spine MRI, CT of head, blood draws, saw neurology and cardiology) and so far everything has been normal. Although those specific syptoms have subsided, I also developed pain in my joints and bones. My question is, because my doctors can’t figure out what is wrong with me, can it be due to this gene mutation? My PCP thinks because I have been under a lot of stress lately, my body was overloaded and could not compensate correctly. Please help!

Thank you!

9 years ago

I was diagnosed recently with one of the mutations and this helped me put an end to the eczema that was plaguing me – it turns out it was caused by the folic acid buildup in my system. After removing supplements contaiing folic acid and all food items containing enriched flour and folic acid, the eczema cleared in just a few days – after years of issues. If I have one enriched flour product, the eczema flares up again – no issue with wheat products otherwise. So i think it is safe to add eczema to the list of conditions… I’m probably not the only one out there.

T Brown
9 years ago
Reply to  Muriel

May I ask which mutation you have? I’m homozygous for A1298C and had one of my daughters tested and found that she’s heterozygous A1298C. The reason I had her tested after I found out about myself was because she’s always had an intermittent eczema-like rash among a few other things. I’ve removed the folic acid from her diet, but we still battle some rashes and breakouts. I have not supplemented her with methylfolate as of yet because I can’t get my hands on a good supplement and getting the dose right will still be a trial. Do you supplement with any methylfolate? If so, can you tell that it helps with your eczema as well?

9 years ago

Elizabeth above posted just about the same symptoms that I have regarding fatigue and anxiety as well as recurrent miscarriage (I have had 5 late missed miscarriages between 11-16 week gestation and 2 early miscarriages, 2 live normal births). I have 2 copies of the A1298C mutation. My last two pregnancies I was treated with ASA 81mg Qd, Lovenox 40mg IM QD the second to last pregnancy and Lovenox 40mg twice daily the last pregnancy as well as taking Folgard which I alternated with the active form of folic acid combo Methylfolate with the necessary B vitamins. Even with that prophylactic treatment both pregnancies where found with no fetal heart tones at 11 and 13 weeks gestation. I’m just not sure if this was the appropriate steps to take since all my labs were normal for homocysteine, folic acid, etc., and I had no positive labs for any type of clotting or bleeding disorder. Its so frustrating not knowing what to do. Please share any helpful information or possible recommendations. Thanks

T Brown
9 years ago

I am homozygous for the A1298C MTHFR mutation. I can probably match most of the weird symptoms and issues that I’ve had over the years to having this MTHFR mutation and not knowing it. Anyway, recently my biggest problem has been cholinergic urticaria – I break out in painful itchy hives across my neck, chest, abdomen and arms every time I take a shower regardless of any variable. I’ve been taking Zyrtec daily for over 3 years to just be able to shower/bathe. As of a few months ago, a found out about this mutation and have avoided folic acid fortified products and have been taking 1mg of methylfolate (along with B12) daily. My allergic response diminished, but was not fully gone. I started doing some more reading on this whole subject and realized that perhaps I was in need of more methyl groups to help remove the excess histamine in my body. I also have had GERD requiring a PPI for coincidentally about the same number of years. So, as of a week ago, I increased the methylfolate supplement to 2mg daily. At the same time I stopped all cetirizine and omeprazole. I’m super happy to report that as of right now, I have no itchy rash at all after a shower. I’m also happy to report that I don’t have heartburn either!

Now, moving forward, I have a question. Do I continue with the 2mg methylfolate since it’s working? Do I go back to a lower methylfolate dose? Do I stop supplementing with methylfolate altogether?

Thanks for reading (and hopefully responding).

9 years ago

Dr. Ben,

In October of 2010, I took a 5 day course of Bactrim and my life has never been the same. Prior to this event, I was a healthy 220 pound athlete who worked out 5 days a week. 4 years later, my current weight is 187 pounds and am unable to lift much of anything. My symptoms include daily nausea, weakness, severe muscle cramping and twitching, fatigue, ibs, tinnitus, abdominal pain etc. I’ve been gluten free for 3 years and have been on the Paleo diet for 2 years – but neither has seemed to help much. I’ve spent thousands of dollars on a battery of tests, conventional and non-conventional, over the years with no definite diagnosis. I recently tested positive for MTHFR1298 – T/T – could there be a correlation? If so, did the Bactrim trigger it and how do I fix it? Thanks for your time.

Houston, TX

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