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MTHFR Gene Mutation FAQs

MTHFR Gene Mutation FAQs

MTHFR gene mutation gives directions in creating the MTHFR enzyme known as the methylenetetrahydrofolate reductase. With this, learning about the MTHFR symptoms, indicators, and vaccines to avoid MTHFR becomes crucial. So, upon getting many calls at our office about MTHFR symptoms and MTHFR gene mutation, here are the common questions we get and our answers.

MTHFR Symptoms | Everything About MTHFR Gene Mutation

In this Article:

1. What Is MTHFR Gene Mutation?

What Is MTHFR Gene Mutation? | MTHFR Gene Mutation FAQs | Mthfr A664a | mthfr gene mutation | mthfr mutation | homocysteine levels


Answer: To put it simply, the MTHFR gene contains instructions for the body to build enzymes, proteins that help the body perform chemical reactions. A mutation is when the instructions of the MTHFR indicators differ from the original. Think of it as "misspelled instructions." This causes the body to make less effective proteins. This prevents the body from efficiently making methionine and synthesizing vitamin B9 for itself.

2. What Are the MTHFR Symptoms?

Answer: As for the MTHFR symptoms, there is no way to know if you have MTHFR problems unless you undergo tests. But, the following conditions can be factors in any complications with MTHFR:

  • a long history of depression or anxiety
  • an autoimmune disease, such as fibromyalgia
  • longstanding GI issues, like irritable bowel syndrome
  • have experienced one or more miscarriages
  • folate deficiency (If the person is folate deficient, he or she can be forgetful and light-headed and may suffer from extreme fatigue.)
  • elevated homocysteine levels

3. What ICD9 Code Do You Use for MTHFR Gene Mutation?

Answer: We haven’t found a specific code for MTHFR, but we use 270.4. This is the code that comes up on the ICD9Data.com search. Also, there is a second code 270.9, an unspecified disorder of amino-acid metabolism that can be used as well. But, we believe 270.4 is the best code to use.

Next, we change the standard description from ICD9Data.com to MTHFR in our medical record system. We also denote the type and whether it is hetero or homozygous. For example, our coding will be 270.4 MTHFR 677 heterozygous or MTHFR 677/1298 compound heterozygous.

Disturbances of Sulphur-Bearing Amino-Acid Metabolism

  • An autosomal recessive inborn error of methionine metabolism is usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency to develop fibrosis of arteries, frequently complicated by cerebrovascular accidents and myocardial infarction.
  • Short description: Sulph amino-acid met dis.
  • ICD-9-CM 270.4 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.

We take out that description and put in MTHFR or MTHFR 677 heterozygous, MTHFR compound heterozygous 677/1298, or MTHFR 1298 homozygous. The detail is useful in the problem list since we treat different variations differently.

4. Do Insurance Companies Pay for MTHFR Gene Mutation Tests?

Answer: Unfortunately, the answer is often no, but that has slowly changed as we are seeing more and more insurance carriers pay for the MTHFR testing. They certainly should since methylation symptoms and issues are treatable and treatment can help mitigate or prevent much more expensive problems both immediately and in the future.

5. Do You Treat All MTHFR Anomalies the Same Way?

Answer: As for the treatment of MTHFR symptoms, no. When the 677 variant is present, we have found that L-methyl folate (Deplin) works best. In essence, we then use methyl B12 when the 1298 variant is present.

6. Can You Expect Side Effects with the Use of Deplin or L-Methyl Folate?

Can You Expect Side Effects with the Use of Deplin or L-Methyl Folate? | MTHFR Gene Mutation FAQs | Mthfr A664a | mthfr gene mutation | mthfr mutation | homocysteine levels


Answer: Yes, there are several common side effects. Deplin can cause an upset stomach in some people when taken on an empty stomach. If the Deplin dose is too high, it may cause the body to dump excessive amounts of toxins into the system. This can also cause side effects. These can be reduced or eliminated in most cases by using a binding agent to bind up toxic bile being released by the liver, or by starting at a lower dose and working up to the maintenance dose.

7. I Looked Up Deplin, and It Is Used for Depression. I Don’t Have Depression, Should I Still Take Deplin?

Answer: If you have an MTHFR 677 anomaly, then you will benefit from L-methyl folate (Deplin). The FDA is fairly simplistic in their thinking, which is one diagnosis, one drug. If you want to use it for something else, then according to the FDA’s way of thinking, you need a different drug name. For example, Zyban (bupropion), a drug to help with smoking cessation, is the exact same medication used as an anti-depressant under several different trade names: Wellbutrin, Voxra, Budeprion, Prexaton, Elontril, or Aplenzin.

DNA Methylation with Deplin

On the other note, physicians understand that a drug may be used for multiple medical problems, and this is called “off-label prescribing.” Also, FDA has approved Deplin as a medical food that has demonstrated a benefit in the treatment of depression, but this does not mean Deplin is only useful for depression. The main reason for using Deplin when MTHFR symptoms are present is because it helps methylation and indirectly raises glutathione. Low glutathione is the root cause of many chronic illnesses.

8. Are Over the Counter Versions of Methyl Folate the Same as the Brand Name Deplin?

Answer: For the most part, the answer is no, with some exceptions. There are racemic versions of methyl folate being marketed as equivalent to L-methyl folate (Deplin). These are not the same as Deplin. Also, the racemic versions contain both D-methyl folate and L-methyl folate. The D-methyl folate (a non-active form of folic acid) can compete at the binding site making the L-methyl folate less effective. There are some forms of L-methyl folate being marketed OTC.

Definition of racemic: Relating to or constituting a compound or mixture composing equal amounts of dextrorotatory and levorotatory forms of the same compound and is not optically active.

9. What Is an SNP?

Web definition: A single-nucleotide polymorphism (SNP, pronounced snip; plural snips) is a DNA sequence variation occurring when a single nucleotideA, T, C, or G – in the genome (or other shared sequences) differs between members of a biological species or paired chromosomes in a human.

MTHFR Mutation Abbreviation

Aside from this, a single nucleotide MTHFR polymorphism is abbreviated as SNP and pronounced snips. This means one nucleotide or setting on the gene has a variation from the normal. For example, in the diagram below, MTHFR 1298C is GT instead of TT. The letters refer to one of the four bases that make up the DNA code. If you feel lost now, then check out the Genetic Science Learning Center below.

Also, the University of Utah Genetic Science Learning Center has an excellent resource that helps you understand this complex genetic nomenclature and the health significance of these SNPs.

10. What Is the Most Affordable Way to Get MTHFR Gene Mutation Testing?

What Is the Most Affordable Way to Get MTHFR Gene Mutation Testing? | MTHFR Gene Mutation FAQs | Mthfr A664a | mthfr gene mutation | mthfr mutation | homocysteine levels


Answer: If your insurance covers it, and that is a big if, that is usually the most affordable way to go, but it requires a physician request. In our office, if patients are not in a hurry, a much better solution is through a genetic testing company.

23andme Genetic Mutation Data Conversion

They offer a much broader profile for $99.00. But, two other websites will convert the 23andme data into the form used by physicians for a nominal fee or a donation. Currently, it is taking about two months to get the report back.

Livewello Gene Mutation Nomenclature

For this, we then use Livewello, which charges $20. You get a nice, easy-to-read, color-coded report with the data presented using nomenclature familiar to physicians, such as MTHFR 677 rather than rs1801133, which referred to as the rsID. The rsID is useful since many databases use this nomenclature for categorizing information on different genetic SNPs. See the NIH SNP database called dbSNP.

Also, the Livewello data is used in the report that looks like this. This is a small part of the report. Here's how a color-coded report looks like: green means normal, yellow is heterozygous, and red is homozygous. In the second report, I have highlighted the MTHFR 677 and MTHFR 1298 SNPs, which are both yellow, so this individual is compound heterozygous 677/1298. But, you can see from the report that there are other areas of concern.

To give you more information, below is the table with the same data copied in spreadsheet format. The links are live and will take you to SNPopedia, which has more detailed information on that SNP.

Gene & Variation rsID Risk Allele Your Alleles Results
GIF (TCN3) rs558660 A AG +/-
MAO A R297R rs6323 G T -/-
MTHFD1 C105T rs1076991 T CT +/-
MTHFD1 G1958A rs2236225 A AG +/-
MTHFR 03 P39P rs2066470 A AG +/-
MTHFR A1298C rs1801131 G GT +/-
MTHFR A1572G rs17367504 G AG +/-
MTHFR C677T rs1801133 A AG +/-
MTHFR G1793A (R594Q) rs2274976 T CT +/-
MTR A2756G rs1805087 G AA -/-
MTRR A66G rs1801394 G AA -/-
MTRR H595Y rs10380 T CT +/-
MTRR K350A rs162036 G AG +/-
MTRR R415T rs2287780 T CC -/-
MTRR-11 A664A rs1802059 A AG +/-
NOS1 rs3782206 T CC -/-
NOS2 rs2297518 A AG +/-
NOS2 rs2274894 T GG -/-
NOS2 rs2248814 A GG -/-
NOS3 rs1800783 A AT +/-
NOS3 rs1800779 G AG +/-
NOS3 rs3918188 A AC +/-


What are your thoughts on our MTHFR symptoms and other MTHFR FAQs? Tell us in the comments section below!

Up Next: Methylation Defect Issues

Disclaimer: These statements have not been evaluated by the Food and Drug Administration. None of the nutritional products mentioned is intended to Diagnose, Treat, Cure, or Prevent Any Disease.
Editor’s Note - This post was originally published on June 22, 2018, and has been updated for quality and relevancy.