“Pyrimidine metabolites reveal how well your body is managing DNA building blocks and detoxifying nitrogen waste.”

 

Pyrimidine Metabolites – Folate Metabolism

Remember this picture? This is from the series on the Methylation cycle.

 

 

 

 

 

 

 

 

 

Pyrimidine Metabolites intersect with Folate Metabolism because folate (vitamin B9) is essential for the de novo synthesis of pyrimidines, particularly during DNA and RNA production.

 

In an Organic Acid Test (OAT), the Pyrimidine Metabolites section evaluates the breakdown products of pyrimidine nucleotides—key building blocks of DNA and RNA, especially cytosine, uracil, and thymine.

None of the markers raised any concerns.

🔬 Metabolite Commonly Measured:

🧪 Orotic Acid (Orotate)

• A major intermediate in pyrimidine synthesis.

• Elevated orotic acid levels may indicate:

  • Impaired urea cycle (especially ornithine transcarbamylase deficiency)

  • B6, B9 (folate), or B12 deficiency

  • Mitochondrial dysfunction (orotate is processed in mitochondria)

  • Imbalanced DNA/RNA synthesis or repair

  • Genetic issues with pyrimidine metabolism (rare)

🧬 Clinical Significance:

• Orotic acid is linked to both amino acid metabolism (via the urea cycle) and nucleotide metabolism.

• High levels can contribute to neurological issues, fatigue, or developmental delay, especially in children.

• It also plays a role in liver health and ammonia clearance.

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🧬 Folate’s Role in Pyrimidine Metabolism:

• 5,10-Methylenetetrahydrofolate donates a carbon group to convert deoxyuridine monophosphate (dUMP) to thymidine monophosphate (dTMP).

• Without folate, this conversion stalls → leads to uracil misincorporation in DNA and potential DNA damage.

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 because folate is needed to convert uracil to thymine by methylation.

High levels of thymine indicate a deficiency in vitamin B1. Low B1 is common among alcoholics and people who are on a 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 go hand in hand.

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

*Sidenote*: Earlier blood tests (2016 and 2018) indicated that Alex has an issue with processing folic acid as you would get it from your multivitamins and supplements, and your pregnancy supplement. Most doctors recommend that women wanting to get pregnant and those who are pregnant take a folic acid supplement to prevent conditions like Spinal Bifida and cognitive disorders in their babies. However, if you have a genetic disposition to a reduced ability to process 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 have already been through the methylation process to make are more useful to the body.

E-folate (RBS)       1305 (result) > 285 (range)(2016)     /     2859 (result) > 500 (range)(2018)

Foods to eat that increase folinic acid or folate:

PLEASE NOTE: ANY VIEWS REGARDING THE RESULTS ARE MY UNDERSTANDING AND DO NOT SERVE AS PROFESSIONAL ADVICE. THE TREATMENT RECOMMENDATION IS STRICTLY RELATED TO ALEX’S RESULTS AND NOT MEANT FOR SELF-TREATMENT. ALWAYS SPEAK TO YOUR HEALTHCARE PROVIDER BEFORE STARTING ANY TREATMENTS.

Updated on 30/09/2023 @ 18:59