Category Archives: Health

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.




Organic Acid Test: Part 5, Ketones and Fatty Acids

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.

Test Results, Part 3

Urine organic acids: Fatty acid oxidation intermediates

3-Hydroxybutyric  acid BDL < 10 mmol/mol creat
Acetoacetic acid BDL < 24.9 mmol/mol creat
Adipic acid 9.43 < 37 mmol/mol creat
Ethylmalonic acid 3.49 < 17 mmol/mol creat
Methylsuccinic acid BDL < 6.05 mmol/mol creat
Sebacic acid 0.11 < 16 mmol/mol creat
Suberic acid 28.9 H < 20 mmol/mol creat

The markers measured here will show how well your body can process fat. These markers are sometimes elevated for persons on the Ketogenic diet or Low-carbs diet, but if there is an elevation in the results and a person is not on a Ketogenic diet it means that the body is not processing that fat too well.

If you are unable to process fat effectively your cells cannot put out the energy needed to function optimally.  Candida, bacterial toxins, and high oxalates can contribute to fat malabsorption. An anti-inflammatory nutrition plan is critical for improving these markers, along with targeted supplementation as indicated by other abnormal markers.

If you want to read more about Ketones, follow the link here.

Many people are following the Ketogenic diet, many dieticians or functional medicine practitioners have suggested the Ketogenic diet for Autistic people. Click here.

On the Great Plains lab results they list the following under Ketone and Fatty Acid Oxidation:

  1. 3-Hydroxybutyric Acid & Acetoacetic Acid
Ketones, such as 3-hydroxybutyric and acetoacetic acids, are the end-products of rapid or excessive fatty-acid breakdown.  Common causes of elevated ketones are prolonged fasting, protein malnutrition, high fat diet, vitamin B12 deficiency, severe GI Candida overgrowth, and pulmonary infections.  Dietary supplements containing L-carnitine or acetyl-L-carnitine may be beneficial.
2. 4-Hydroxybutyric Acid A moderate urinary increase in 4-hydroxybutyric acid may be due to intake of dietary supplements containing 4-hydroxybutyric acid, also known as gamma-hydroxybutyric acid.  Very high results may indicate the genetic disorder involving succinic semialdehyde dehydrogenase deficiency.

3. Adipic Acid Slightly elevated adipic acid may result from excessive ingestion of gelatin or other “junk” food containing adipic acid as an additive.  Elevated adipic acid may also indicate an abnormality in fatty acid metabolism.  Dietary supplements containing L-carnitine or L-acetyl-carnitine may be beneficial.  

4. Suberic Acid, Sebacic Acid, Ethylmalonic Acid & Methylsuccinic Acid Increased urinary products of omega- fatty acid metabolism pathway may be due to carnitine deficiency, fasting, or increased intake of triglycerides from coconut oil, or some infant formulas.  Very elevated values may indicate a genetic disorder.  Fatty acid oxidation defects are associated with hypoglycemia and lethargy.  Regardless of the cause, intake of dietary supplements containing L-carnitine, or acetyl-L-carnitine may improve clinical symptoms.

On Alex’s test, the Suberic Acid was elevated 28.9/ 20.  This is a very interesting acid, as it can indicate some-one was fasting overnight or AN INCREASE IN OIL USE.

The comments from the Lab technician stated: “The isolated increase in Suberic acid is likely dietary in origin and not suggestive of compromised beta-oxidation capacity.” 

The reason why I said that this result is interesting is that because we have been struggling with Alex to pick up weight, we started to give Alex food with a higher fat content like full cream yoghurt and using spread that 70% more fat spread than the more plastic margarine.  Also, and I know this is maybe THE reason why this acid is so elevated is that his chicken patties and french fries have been fried, even if it is only a little bit of oil, and not baked.

Organic Acid Test: part 4, Glycolytic Cycle and Krebs Cycle 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.

Test Results, Part 2

In our South African test, the Glycolytic Cycle and Krebs Cycle results are combined, whereas in the Great Plains test it is separate.

Glycolysis is the metabolic pathway by which we convert glucose into lactate and pyruvate to form energy. If levels of lactic and pyruvic acids are elevated, a person has mitochondrial dysfunction.

High values for these markers may indicate that environmental toxins, particularly mold, are affecting your mitochondria. High lactic acid is commonly elevated with mold issues.

Glycolytic Cycle

Urine organic acids: Glycolysis and Krebs Cycle intermediates

2-Oxoglutaric acid/2-Ketoglutaric acid 1.72 L 36 – 103 mmol/mol
Aconitic acid 24.67   17.3 – 63.3 mmol/mol
Citric acid 31.44   < 656 mmol/mol
D/L-2-Hydroxyglutaric acid 2.47   < 35 mmol/mol
DL-Lactic acid 3.4 L 20 – 346 mmol/mol
Fumaric acid BDL   2 – 42 mmol/mol
Isocitric acid 12.97   < 99 mmol/mol
Malic acid 0.13   < 73 mmol/mol
Pyruvic acid 0.05   < 19 mmol/mol
Succinic acid 10.09 L 16 – 156 mmol/mol

In the Glycolytic we look at the following markers

  1. Lactic acidLactic acid is produced as part of the cycle when your body takes food, or sugars, and process it for energy. You know that burn you feel in your muscles after some exercises, that is lactic acidosis. In Afrikaans, we speak of “miltsteek”, that sharp pain you somethings get in your side after exercising especially when you are unfit. Elevations of lactic acid and/or pyruvic acid can also be caused by many nonspecific factors, such as vigorous exercise, bacterial overgrowth, shock, anaemia, mitochondrial dysfunction, or other causes.
  2. Pyruvic acid – Pyruvic acid can be made from glucose (sugar) through glycolysis, converted back to carbohydrates (such as glucose) via gluconeogenesis, or to fatty acids through a reaction with acetyl-CoA.
  3. 2-Hydroxybutyric acid – 2-Hydroxybutyric acid is a ketone body produced as a by-product of fatty acids oxidation for energy. This acid will be elevated if there is a yeast overgrowth.

Elevated levels of these three acids might indicate there are inborn errors of metabolism, including disorders of sugar metabolism and pyruvate dehydrogenase deficiency. The possibility of an inborn error of metabolism increases as the lactic acid value exceeds 300 mmol/mol creatinine and when pyruvic acid exceeds 100 mmol/mol creatinine.

Krebs Cycle

For more details on the Krebs Cycle, you can read more about it as part of the MTHFR series, click here.

Like previously mentioned the Glycolytic Cycle and the Krebs cycle is actually part of the same process. The Krebs cycle uses sugars to create lactic acid and pyruvic acid to produce energy for the cells.

In the Krebs Cycle they look at these markers:

  1. SuccinicLow levels could indicate a need for the branch chain amino acids leucine and isoleucine. An elevated result may also indicate a relative deficiency of riboflavin and/or coenzyme Q10.  Suggest supplementation with a minimum of 20 mg riboflavin and/or 50 mg per day of coenzyme Q10.  Also produced by bacterial degradation of unabsorbed glutamine supplement. Foods that contains Succinic acid include broccoli, rhubarb, sugar beets, fresh meat extracts, various cheeses, and sauerkraut.  
  2. Fumaric (Increased urinary fumaric acid may be due to impaired Krebs cycle function, a defect in the enzyme fumarase or in mitochondrial function.)
  3. Malic (Slightly elevated values usually indicate a higher need for nutrients such as niacin and coenzyme Q10.When malic acid is simultaneously elevated with citric, fumaric and 2-ketoglutaric acids, a mitochondrial energy pathway dysfunction is strongly suggested.)
  4. Citric (Elevations may be due to increased intake of citric acid containing foods or result from intestinal yeast producing citric acid or perhaps inhibiting the human citric acid cycle.  Increased citric acid may also indicate depletion of glutathione, which is required for the enzyme aconitase to metabolize both aconitic and citric acids.  If pyroglutamic acid values are low, consider supplements containing glutathione, n-acetyl cysteine, or lipoic acid.)
  5. 2-Ketoglutaric acids/ 2-Oxoglutaric acid – Increased values in urine may be due to dietary vitamin deficiencies or the intake of 2-ketoglutaric acid as a supplement.  The conversion of 2-oxoglutaric acid to succinyl-CoA requires coenzyme A (derived from pantothenic acid), lipoic acid, flavin adenine dinucleotide (FAD) derived from riboflavin (B2), and thiamine (B3).
  6. Aconitic Acid (Aconitase, the enzyme that metabolizes citric and aconitic acids, is dependent upon glutathione. Elevated in mitochondrial disorders (e.g. Complex I and Pierson Syndrome).  Elevated aconitic acid may indicate an additional requirement for reduced glutathione.)

Elevations in Krebs Cycle metabolites are commonly due to environmental toxins such as heavy metals or mold, yeast/fungal or bacterial overgrowth, high oxalate levels, or high oxidative stress. A less common indication of high levels would be a genetic issue.

Organic Acids Test: part 1, Introduction

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.

What is It?

The Organic Acids Test (OAT) is a comprehensive test that gives metabolic insight into a person’s overall health. Some of the markers on the organic acids test including vitamins and antioxidants, oxidative stress, energy production, detoxification, neurotransmitter levels, oxalates, and intestinal yeast and bacteria.

It is believed that people with chronic illnesses, neurological issues, and other health conditions often excrete abnormal acids in their urine.

Organic Acids Test

What does it all look at?

The OAT looks at complex biomarkers from various metabolic pathways.

Abnormal concentrations of organic acids provide functional markers for the metabolic effects of micronutrient inadequacies, toxin exposure, neuroendocrine activity, enzyme deficiencies, and intestinal bacterial overgrowth.

The OAT gives an overview of several major systems in the body and analyzes nutrient deficiencies. Utilizing this test can reveal the need for dietary modifications, antioxidant and nutrient support, detoxification, oxalate reduction, and other therapies.

As you can see there is also a lot of sections that the Methylation Test also tests for, but the organic acid test tells you in the pathways is missing.

Next, we will look at who to review a test through Alex’s results.

pictures from Dr

Happy Gut, Happy you

End result – Beef bone broth

Still cooking

Left overs

So, from my son’s latest test results it is clear that he is not getting all the nutrients from his food that he is suppose to be getting. And with his very restrictive diet that is not a good thing.

READ: We are trying new foods (link to follow soon)

How then do you make sure that you get all the nutrients out of your food?

Make sure your GUT WORKS PROPERLY!!!!!

As you all know, Alex did have a leaky gut which we sorted out, but he still have issues with gut health. Constipated a lot.

What is a Leaky Gut?

… “we have an extensive intestinal lining covering more than 4,000 square feet of surface area. When working properly, it forms a tight barrier that controls what gets absorbed into the bloodstream. An unhealthy gut lining may have large cracks or holes, allowing partially digested food, toxins, and bugs to penetrate the tissues beneath it….” (Harvard Health Publishing, Harvard Medical School)

… “We all have some degree of leaky gut, as this barrier is not completely impenetrable (and isn’t supposed to be!). Some of us may have a genetic predisposition and may be more sensitive to changes in the digestive system, but our DNA is not the only one to blame. Modern life may actually be the main driver of gut inflammation.” (Harvard Health Publishing, Harvard Medical School)

However for a long time, and still, the traditional medical fraternity does not give stock much to leaky gut – yes, you might have a gastro-intestinal issue, but terms like leaky gut in not in their dictionary. And yet Hippocrates, the father of medicine, coined the phrase

“all diseases begin in the gut”

and that for true healing and optimum health that we need to exercise,

“let medicine be thy food and food thy medicine”

and the

“natural forces within us are the true healers of disease”.

So what does the above picture have to do with Leaky Gut?

The most natural way to support your gut, to make it healthy is to:

1. Plug the holes that is not suppose to be there

2. Help you digest your food better – Digestive enzymes

3. Keep your gut health – probiotics

You know that old tradition of giving sick people chicken broth/ soup or watery rice porridge to help them get better? Where does it go? To the stomach! So you help the stomach to help you get better.

!!!Enter a boney broth!!!

The collagen and gelatin in the bones helps plug the holes and makes it more stretchy. It nourishes the gut lining and reduces inflammation. (Goodbye Leaky Gut)

It also protect joints, helps maintain a healthy skin, support immune system function, boost detoxification, and aids the metabolism and promotes anabolism. (Bone Broth Benefits for Digestion, Arthritis and Cellulite)

Some of the conditions related to Leaky gut:

Acne, allergies, brain fog, Celiac disease, constipation, Crohn’s disease, depression, diarrhea, eczema, fatigue, food intolerance, Hashimoto’s thyroiditis, hives, Irritable Bowl Syndrome, migraines, overweight/obesity, psoriasis, rheumatoid arthritis, rosacea, ulcerative colitis, Small Intestinal Bacterial Overgrowth, diabetes, etc. (How to Heal Leaky Gut Syndrome: Everything You Need to Know About This Digestive Condition) This is a very comprehensive website, very interesting.

About that bone broth?

Everyone has their own recipe and you can even buy bone broth powder online. But the basic recipe is:

Bone Broth Recipe

Calories: 379 per serving Prep Time: 10 minutes Cook Time: 25 minutes Total Time: 35 minutes


  • 3-4 pounds beef marrow and knuckle bones
  • 2 pounds meaty bones such as short ribs
  • 1/2 cup apple cider vinegar
  • 4 quarts filtered water
  • 3 celery stalks, halved
  • 3 carrots, halved
  • 3 onions, quartered
  • Handful of fresh parsley (some people add garlic and ginger because of their properties)
  • Sea salt

Serving Size: 3 Quarts


  1. Place bones in a pot or a crockpot, add apple cider vinegar and water, and let the mixture sit for 1 hour so the vinegar can leach the mineral out of the bones.
  2. Add more water if needed to cover the bones.
  3. Add the vegetables bring to a boil and skim the scum from the top and discard.
  4. Reduce to a low simmer, cover, and cook for 24-72 hours (if you’re not comfortable leaving the pot to simmer overnight, turn off the heat and let it sit overnight, then turn it back on and let simmer all day the next day)
  5. During the last 10 minutes of cooking, throw in a handful of fresh parsley for added flavor and minerals.
  6. Let the broth cool and strain it, making sure all marrow is knocked out of the marrow bones and into the broth.
  7. Add sea salt to taste and drink the broth as is or store in fridge up to 5 to 7 days or freezer up to 6 months for use in soups or stews.

For more recipes click here and here.

As you can imagine, this is hight supported in the Methylation community –

“The “dance of methylation” extends far beyond supplementing with B12 and methylated folate. Indeed, long term outcome studies using this approach are lacking, and research suggests caution is advised with regard to imbalanced hypermethylation. However, much can be done to safely support methylation balance.

Sparing “methyl donor drain” through appropriate lifestyle interventions, including reducing total body inflammation, augmenting the microbiome and promoting exercise, stress reduction and sufficient sleep, along with a careful dietary prescription that supports methyl donor reserve is a safe, nuanced approach which allows the complex, homeodynamic process of methylation to take place.” (Dr Kara Fitzgerald, Functional Medicine)

For those that follow the GAPS diet as a health plan for autistic people, this is also a staple: “Bone broth is a staple of the GAPS Diet, which is based on the Gut and Psychology Syndrome (GAPS) principles developed by Dr. Natasha Campbell-McBride.

The GAPS diet is often used to treat children with autism and other disorders rooted in gut dysfunction, but just about anyone with allergies or less than optimal gut health can benefit from it, as it is designed to heal leaky gut.”

But the bone broth is not vegan or vegetarian friendly because of the meat, but there is a recipe for you too:

Vegan Bone Broth Recipe

Makes about 3 quarts


4 tablespoons neutral oil like avocado, grapeseed, or safflower
2 cups celery, finely chopped
1 cup golden beets thinly sliced in strips
Small handful of dried wakame reconstituted in a bowl of water
4 cups mixed of fresh chopped spinach and kale
2 tablespoons tamari or nama shoyu soy sauce
¼ cup organic light miso paste
1/4 cup fresh parsley, roughly chopped
1 bay leaf
12-16 cups of water or veggie broth

*optional: 1/2 chunk of fresh turmeric, finely chopped, 1 cup chopped onion and 1-2 cloves garlic minced.


In a large stock pot, sauté celery in oil over medium-low heat. (If you’re adding turmeric, onion and garlic, add them now as well).

Once celery is tender – about 5 minutes – add bay leaf, beets, water or veggie broth and soy sauce. Increase heat to medium flame and cover the pot.

Drain the excess water off of the wakame and add it to the pot. Bring to a near boil and reduce heat to low, letting broth simmer for about 45 minutes. Add spinach and kale, parsley and miso paste, stirring until miso dissolves.

Strain off vegetables and use broth or serve with veggies for a light soup.

Traditional bone broth is simmered for as long as 24 hours. If that long cooking extraction method speaks to you, these ingredients (except for miso paste) can all go into a slow cooker. Once the broth is ready, add miso paste just before serving.

MTHFR part 15: Homocysteine part 3

Previously we saw that your B vitamins is needed for most of your body’s systems, it is certainly very important in your methylation cycle.

We learned that Homocysteine is a sulfur-containing amino acid that can be converted to cystathionine and further to cysteine via the transsulfuration pathway (CBS) or remethylated to methionine. Also, that Homocysteine is produced by the body by chemically altering adenosine.

To learn more about adenosine, click here.

      Do you Know?

Migraine is a debilitating inflammatory blood vessel disease that may be triggered by damage inflicted by elevated blood levels of homocysteine to the endothelium of blood vessels in the brain.

Researchers have long suspected that migraine headaches have a genetic component, because migraine sufferers often have family members who also have the condition. Studies suggest that MTHFR polymorphisms may account for the genetic predisposition to migraine in some individuals.

      Do you Know?

Epilepsy also have a connection to elevated levels of Homocysteine.

Systemic administration of high doses of homocysteine in animals produce convulsive seizures, a fact that has been exploited in models of experimental epilepsy. Furthermore, up to 20% of patients with homozygous CBS deficiency have seizures, and the high plasma concentrations of homocysteine in these patients (usually 50-200 µmol/L) may contribute to epilepsy. Whether less severe hyperhomocysteinemia (15-20 µmol/L) predisposes patients to epilepsy has not been established.

Homocysteine relates to 2 additional important issues in the management of patients with epilepsy. First, most anticonvulsants lower plasma folate levels, and as a result, almost half of patients treated with anticonvulsants had homocysteine levels sufficiently elevated to put them at high risk for vascular disease. Arteriosclerosis is an important issue for patients requiring long-term anticonvulsant therapy, particularly given the rising incidence of epilepsy in older age groups. The effectiveness of polyvitamin therapy in lowering homocysteine levels in the setting of anticonvulsant use has not been directly studied.

A second issue relates to putative teratogenic effects of high homocysteine levels. There is an increased risk of major congenital malformations in children whose mothers receive anticonvulsants during the first trimester. While the mechanism of teratogenicity in folate deficiency is unclear, recent data implicate elevations in homocysteine. First, fasting or PML hyperhomocysteinemia is commonly found in women who have given birth to infants with neural tube defects. Second, the C677T mutation in the MTHFRgene significantly increases the risk of neural tube defects. Finally, amniotic fluid homocysteine levels were found to be significantly higher in pregnancies complicated by neural tube defects. Observations such as these led to a practice parameter recently promulgated by the American Academy of Neurology, recommending that all women of childbearing potential who are taking anticonvulsants consume at least 0.4 mg/d of folic acid. Whether this or higher doses of folic acid are effective in lowering homocysteine levels or in decreasing the incidence of neural tube defects in epileptic women has not been studied. It is also unclear whether cyanocobalamin and pyridoxine hydrochloride supplements are necessary for this population.

Read the full article on Homocystein and Neurologic Disease here.

We have also seen that elevated homocysteine can be caused drugs. However, a number of prescription drugs and natural compounds can also elevate the blood levels of homocysteine by interfering with folate absorption or metabolism of homocysteine. These include:

  • Azaribine
  • Caffeine
  • Cholestyramine
  • Colestipol
  • Colchicine
  • Fenofibrate
  • Levodopa
  • Metformin
  • Methotrexate
  • Niacin or Vitamin B3
  • Nitrous oxide
  • Nonsteroidal anti-inflammatory drugs (NSAIDs)
  • Pemetrexed
  • Phenytoin
  • Pyrimethamine
  • Sulfasalazine

The good news is that high homocysteine levels can be managed through diet and vitamin supplementation. The most important nutrients that help lower homocysteine levels are folate, the vitamins B12, B6 and B2, zinc and trimethylglycine (TMG) or Betaine.

However, ordinary folate/ folic acid supplements might not cut it. One possible reason is that folic acid, the form of the vitamin used in most supplements and enriched foods, is not bioavailable enough to sufficiently increase plasma folate levels in people with certain health problems or genotypes, especially when you have an MTHFR issue.

Folic acid, as used in ordinary dietary supplements and vitamin-fortified foods, must first be converted to bioactive 5-methyltetrahydrofolate in order to be clinically effective. These steps require several enzymes, adequate liver and gastrointestinal function, and sufficient supplies of niacin (B3), pyridoxine (B6), riboflavin (B2), vitamin C, and zinc. Another advantage of 5-MTHF is that it is unlikely to mask a vitamin B12 deficiency, a shortcoming of folic acid. Folic acid, when administered as a single agent, may obscure the detection of vitamin B12 deficiency (specifically, folic acid may reverse the hematological manifestations of B12 deficiency, while not addressing the neurological manifestations).

Cooking and food processing destroy natural folates. Although red blood cells can retain folate for 40-50 days following discontinuation of supplementation, folic acid is poorly transported to the brain and is rapidly cleared from the central nervous system.

Researchers recently found that giving bioactive folate or 5-MTHF (5-methyltetrahydrofolate) to patients with coronary artery disease resulted in a higher plasma folate concentration compared with folic acid. This difference was irrespective of the patient’s genotype. Compared with bioactive 5-MTHF, folic acid supplements were relatively ineffective in increasing blood folate concentrations.

MTHFR part 14: Homocysteine part 2

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. Always consult your doctor first before trying a new treatment.

Homocysteine is a sulfur-containing amino acid that can be converted to cystathionine and further to cysteine via the transsulfuration pathway or remethylated to methionine. The latter reaction is catalyzed by methionine synthase in most tissues. In this reaction, vitamin B12 (cobalamin) serves as cofactor and folate (5-metyltetrahydrofolate) as substrate. In the liver and kidney, an additional pathway for homocysteine remethylation exists, requiring betaine as a methyl donor. Choline is the immediate metabolic precursor of betaine. Choline is involved in membrane biosynthesis and acetylcholine formation and is regarded as a critical nutrient in fetal development and neuro-transmission.

An interesting readAdd brain assault to homocysteine’s rap sheet

There are two major conditions too high or too low homocysteine levels can cause:

  1. Hyperhomocysteinemia – When the levels are high. This is the more come of the two. a person more prone to endothelial cell injury, which leads to inflammation in the blood vessels, which in turn may lead to atherogenesis, which can result in ischemic injury. Hyperhomocysteinemia is therefore a possible risk factor for coronary artery disease.

1.2. Homocystinuria – Homocystinuria is more severe than Hyperhomocysteinemia. This is when level of Homocysteine is dangerously high. It is much rarer than Hyperhomocysteinemia, it is autosomal recessive disorder characterized by severe elevations in plasma and urine homocysteine concentrations. Clinical manifestations of homocystinuria include developmental delay, osteoporosis, ocular abnormalities, thromboembolic disease, and severe premature atherosclerosis. This condition is mainly recognized in childhood.

  1. Hypohomocysteinemia – This is when your homocysteine level are low. Lower than normal homocysteine levels can be a result of a metabolic insult which prompts the body to produce more glutathione  than normal, low intake of the amino acids methionine and cysteine, an inherently low level of the enzyme MTHFR, low intake of vitamins folate and B12, or increased detoxification of xenobiotics through the phase II liver reaction sulfation.

Hypohomocysteinemia has been shown to play a role in the malnutrition-inflammation-cachexia syndrome with which low dietary intake of methionine would lead to worsening of chronic kidney disease, with which homocysteine can be a variable in determining survivability of the patient.

If there is a low level of antioxidants, the body will steal cysteine from homocysteine to support glutathione production. So low homocysteine may be a sign of oxidative stress. Formation of more cysteine from homocysteine would then deplete the homocysteine pool to support the formation of glutathione to combat the free radicals.

Another factor that would deplete homocysteine levels would be the detoxification pathway sulfation – CBS. Cysteine is also employed in the formation of bile acids such as taurine. Taurine is especially synthesized when the body takes in fat and alcohol. Synthesis of taurine would also deplete homocysteine levels by promoting the Transulfuration pathway in the formation of cysteine.

You can watch more here.

MTHFR part 13: Homocysteine

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. Always consult your doctor first before trying a new treatment.



noun: homocysteine
  1. an amino acid which occurs in the body as an intermediate in the metabolism of methionine and cysteine.

Even though making sure that your methylation cycle is working optimally, making sure your homocysteine levels is balance is more important.

Many factors are thought to raise levels of homocysteine – poor diet, poor lifestyle especially smoking and high coffee and alcohol intake, some prescription drugs, diabetes, rheumatoid arthritis and poor thyroid function. Raised levels are also associated with chronic inflammatory diseases in general, and some intestinal disorders such as coeliac and Crohn’s diseases. Levels increase with age and higher levels are more common in men than women. Levels of homocysteine can increase with oestrogen deficiency and with some long term medications, including corticosteroids. Strict vegetarians and vegans may also be at risk and people who suffer from stress. As with cholesterol, family history and genetic make-up can play a part in causing raised levels as can obesity and lack of exercise. Even people with an active, healthy lifestyle may still be at risk, if there is a family history of high levels of homocysteine or disease.

At high levels, it can damage the lining of arteries and encourage blood clotting, this may raise your risk for coronary artery disease, heart attacks, blood clots, and strokes.

High levels of homocysteine may be cause by low levels of:

  • Vitamin B-12 (cobalamin)
  • Vitamin B-6 (pyridoxine)
  • Vitamin B-2 (riboflavin)
  • Vitamin B-9 (folic acid, folate)

Researchers suggest that:

Blood reference ranges for homocysteine:
Sex Age Lower limit Upper limit Unit Elevated Therapeutic target
Female 12–19 years 3.3[14] 7.2[14] μmol/L > 10.4 μmol/L
> 140 μg/dl
< 6.3 μmol/L[15]
< 85 μg/dL[15]
45[16] 100[16] μg/dL
>60 years 4.9[14] 11.6[14] μmol/L
66[16] 160[16] μg/dL
Male 12–19 years 4.3[14] 9.9[14] μmol/L > 11.4 μmol/L
> 150 μg/dL
60[16] 130[16] μg/dL
>60 years 5.9[14] 15.3[14] μmol/L
80[16] 210[16] μg/dL

Many people suffering from cardiovascular disease, stroke, migraines, and dementia could be suffering from the adverse effects of elevated levels of homocysteine in their blood. This condition has also been linked to other problems, including osteoporosis, birth defects, macular degeneration, and certain types of cancer.

In most cases, doctors will not consider testing for homocysteine and could therefore be treating their patients without success. Most health-conscious people know their cholesterol level but few know their equally important homocysteine number.

Homocysteine is still part of your MTHFR cycle, however the MTHFR mutations appear to be medically irrelevant, so long as an individual’s homocysteine level is normal. Therefore, it should be the homocysteine level, not the MTHFR genetic status, that is tested when looking at the conditions mentioned above.

Again we see that your B- Vitamins plays an important roll. Your CBS pathway – the liver pathway or the detox pathway starts with homocysteine.

How Often Should Homocysteine Levels Be Checked?

Once an elevated level has been found and folic acid and/or vitamin B6 and B12 therapy is initiated, it is worthwhile to recheck a level about 2 months later to make sure that it has normalized. If it has not normalized, the dose of folic acid or vitamin B6 and B12 can be increased. It is reasonable to then recheck levels another 2 months later.


MTHFR part 12: CBS part 4

Lets talk Elements…


If you have a CBS mutation, keeping an eye on your hormones is important as well as maintaining minerals like Copper, Molybdenum, Zinc and Manganese.

A possible consequence of CBS upregulation is and increase in Copper (read about copper overload here.)

Other serious health conditions due to a CBS irregularity is:

  • Blood – iron deficiency anemia
  • Liver impairment – Wilson’s disease
  • Immune system – prolonged viral and fungal infections, delayed wound healing
  • Thyroid gland – thyroid insufficiency and hypothyroidism
  • Nervous system – depression, anxiety, and aggression
  • Neurological disorders – some emotional disorders, impaired mental function
  • Reproductive hormonal imbalances – PMS
  • Adrenal gland – adrenal fatigue, insufficiency, and weakness
  • Gastrointestinal disorders – constipation and gastritis
  • Musculoskeletal system – scoliosis, osteoarthritis, or poor collagen and elastin production
  • Cholesterol – hypercholesterolemia, or high cholesterol levels in the blood
  • Gallbladder – gallstone formations

Low zinc level can lead to issues with loss of appetite, taste and smell, frequent infections, elasticity of skin, low fertility, or pale, acne prone skin.

  • Possible low homocysteine levels.
  • Sleep problems.
  • Oxidative stress.
  • Stomach issues.
  • Dizziness and low blood pressure due to increased hydrogen sulfide.
  • Possible high blood pressure from changes in lower homocysteine levels.
  • BH4 deficiency can cause depression, anxiety, mood problems, or panic attacks.

Molybdenum deficiencies could cause breathing difficulties or neurological disorders.

  • A deficiency of Vitamin B1 can lead to a multitude of disorders including tender muscles, rapid heartbeat, poor memory, irritability, and constipation.
  • Low levels of Vitamin B2 can cause split nails, skin problems such as cracked lips, dull or oily hair, and eczema, as well as problems with eyes including burning sensations, cataracts, and sensitivity to bright lights.
  • Vitamin B6 deficiencies are often responsible for water retention, tingling hands, depression, infrequent dream recall, nervousness, irritability, lack of energy, flaky skin, muscle tremors, and cramps.

So, CBS is just as important as the Folate Cycle.  Functions in both the Folate cycle and CBS happens at the same time, yet they can function independently.


MTHFR part 11: CBS part 3

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. Always consult your doctor first before trying a new treatment.

Leaky bucket / Food sensitivities

If your CBS cycle is not working properly, think about it as you having a leaky bucket.

Everything you place into the bucket just leaks in to your liver and kidneys to be filtered. But because of the holes in your bucket nothing get filtered properly and this can lead to nutrients, minerals and antioxidant deficiencies. We the reduction in nutrients being absorb, food sensitivities can occur. This can result in leaky gut syndrome and increased issues with your gut.

An CBS issue is responsible for the evelvation of Taurine, ammonia, sulfites and hydrogen sulfide.

An CBS mutation can be a bugger, because no matter how much you change your diet, try to live health and take supplements, the mutation can cause your “good living” to be bad for you. this process can also raise the levels of glutamate which can lead to excitotoxicity.

We know that the gut is involved too, and with the gut working with the adrenal glands, any issues with constantly stimulate the body’s fight or flight system. And with the body being swamped with the gut-based molecules such as high amounts of folic acid/folate created by the CBS upregulation, potent toxins can upset the methylation cycle. This can cause a condition called Adrenal Fatigue Syndrom.

(no wonder doctors always treat autistic people for anxiety, because they are always in a constant fight/flight mode – always anxious)

In men a CBS mutation can also cause issue with their testosterone.