Tag Archives: MTHFR

Organic Acid Test: Part 6, Pyrimidine Metabolites

Please note: The content of this post is my own unless the technical terms are too hard to explain, then the content is copy and paste. I am not a medical professional and thus the post is my point of view. But the content is science-based and credible. Just because it is a new science, does not necessarily make it quackery.

Pyrimidine Metabolites – Folate Metabolism

Remember this picture? This is from the series on MTHFR (methylation cycle)

The Pyrimidine metabolites in the Organic Acid test also points to your folate cycle. In the Organic acid test, there are two acids they look for :

  1. Uracil
  2. Thymine

Folate acts as a methyl donor in converting uracil to thymine.

Elevated Uracil could also indicate MTHFR homozygous gene mutation and methylation problems including high homocysteine. High levels of uracil are found with folate (vitamin B9) deficiencies.

High levels of thymine indicate a deficiency in vitamin B1. Low B1 is common with alcoholics, and for people who are on very high carbohydrate, low-nutrient diet.  Very high levels are associated with inflammatory diseases and cancer.

This is why the MTHFR/ Methylation test and the Organic acid test goes hand in hand.

According to some studies, around 10% of autistic children have elevated uracil acid. Great Plain Laboratories has a specific test testing Uric acids, click here and here

From earlier blood tests (2016 and 2018) you can see that Alex has an issue with processing folic acid as you would get if from your multivitamins and supplements and your pregnancy supplement. Most doctors recommend women wanting to get pregnant and those that are pregnant to take a folic acid supplement to prevent this like spinal bifida and cognitive disorders in their babies, but if genetically you have a disposition to not be able to process that folic acid it can build up and cause more harm. That is why taking folinic acid or folate instead is more beneficial. Folinic acid and folate has already been through the methylation process to make are more useful to the body.

2016 vs 2018 Blood test – folic acid:
E-folaat (RBS) 1305 >285.0 2859 > 500

A slight increase, but apparently this is normal as your levels are not always the same every day.

Organic acid test results:
Thymine BDL < 0.8 mmol/mol creat
Uracil 0.71 < 6.8 mmol/mol creat

It was too low to measure. (I am yet to find a doctor to explain this to me – the reason why the blood test shows elevation and the organic acid test was too low).

Foods to eat that increase folinic acid or folate:

Another acid that is part of the methylation cycle and which is also picked up on the Organic acid test is Vitamin B12 or Methylmalonic Acid. But more about it later in the section on Nutritional Markers.

 

 

 

Methylenetetrahydrofolate Reductase part2

Please note: The content of this post is my own, unless the technical terms is too hard to explain, then the content is copy and pasted. I am not a medical professional and thus the post is my point of view. But the content is science-based and credible. Just because it is a new science, does not necessarily make it quackery. 

So lets unpack the test a bit:

What is Methylation?

Methylation is a chemical reaction that occurs in every cell and tissue in your body. The methylation of proteins helps the body detoxify. For example, the methylation process helps convert the toxic amino acid (homocysteine) into a beneficial amino acid (methionine). If your body cannot methylate properly, toxins build up in your bloodstream and will eventually cause disease.

When optimal methylation occurs, it has a significant positive impact on many biochemical reactions in the body that regulate the activity of the cardiovascular, neurological, reproductive, and detoxification systems, including those relating to:

How do they get the results and why:

Using the buccal swab (cheek swab) sample they then put it through a process called the Polymerase Chain Reaction (PCR), which copies the DNA of your genes many times over so that they can generate sufficient quantities to analyse the genetic material. They then identify unique DNA sequences in some of the genes. Certain changes (polymorphisms) in these genes have been studied in detail, with evidence that correlates these polymorphisms with an individual’s risk of developing certain chronic disease conditions or altered metabolic processes. Having identified the presence or absence of these polymorphisms, we are able to qualitatively assess particular areas of health risk related to the specific genes. To make a holistic assessment of health risks, environmental factors (diet and lifestyle) need to be considered in conjunction with the accompanying genetic profile.

Who is all involed?

B vitamins provide building blocks for growing cells, which are constantly being renewed, and play an important role in many physiological processes. These vitamins – including folate, vitamins B6 and B12 – help make new DNA for cells that are constantly growing and renewing themselves. Folate is also involved in turning many genes on and off, and also helps repair DNA. Although B vitamins are only required in small amounts, they are crucial for methylation and in producing new DNA.

The results can have one of 5 outcomes:

Overview of the results:

… Next – Folic Acid, B12 and B6 …

The Methylate or not to Methylate?

Please note: The content of this post is my own, unless the technical terms is too hard to explain, then the content is copy and pasted. I am not a medical professional and thus the post is my point of view. But the content is science-based and credible. Just because it is a new science, does not necessarily make it quackery.  

That is a good question

What is Methylation all about?

If you followed the link in the “One year later post”, you would have find an very interesting bit of science.

Simply put, the metylation process is necessary for the body to effectively detox, to prevent harmful build up of toxins in your cells which can cause the cells not to function optimally which then leads to various health conditions.

Over 50% of the global population has a methylation issue, but not everyone has symptoms that effects their daily life.

Why do I think it is important?

To know whether you have the gene mutation will help you find the way for your body to function close to 100%. It will tell you what foods to eat and medicine would work more effectively.

With a person who has Autism it will not cure them, but it will help you to keep them as health as possible – body, mind and soul.

Alex’s results:

Six genes were tested – MTHFR C677T and A1298C,  MTRR, MTR, CBS and COMT.

The MTHFR C677T and A1298C has an impact on his folic acid metabolism (how well the body absorbs and process folic acid or Vitamin B9 (Folate)). Folate is the natural vitamin while folic acid is the synthetic form.

MTRR has an impact on the Vitamin B metabolism.

MTR provides the instruction for making an enzyme called methionine synthase.

CBS this gene is the connection between Methylation and Transsulfuration/ Glutathionine.

COMT this enzyme regulates the levels of stress hormones and hormones form the environment (food).

Crazy stuff?! Right?

Now here is where it gets interesting: MTHFR and MTRR were both homozygous.

Homozygous means from both parents.

CBS and COMT were both heterozygous.

Heterozygous means from only one parent.

Yip, MTHFR gene mutation is genetic.

This is not the full results as the doctor still need to explain what it all means health and lifestyle wise. We will have a meeting with her on the 28th of August.