CBS: (Cystathionine Beta Synthase) This enzyme converts homocysteine to cysteine and glutathione. This is an upregulation defect; it regulates the enzymes that help to convert homocysteine into glutathione, a major antioxidant. Mutations in the CBS genes will produce more sulfur end products from the methylation cycle. In particular, individuals who have the CBS (+/+, or +/-) the homozygous or heterozygous variants may want to limit intake of sulfur-containing foods (like cruciferous vegetables, garlic, and supplements, such as MSM) as well as medications (like DMPS.) Both the CBS homozygous and heterozygous mutations also have a higher risk for ammonia detoxification issues. This mutation can also indirectly affect an enzyme called G6PDH, which has negative effects on blood sugar metabolism, red blood cell formation, and blood vessel stability, leading to easy bruising, bleeding, and broken blood vessels along with vascular imbalances.
Symptoms include; low energy, brain fog, headaches, blood sugar regulation issues, viral infections, anxiety, and insomnia (from increased cortisol). This defect can also lead to a depletion of SAMe (S-adenosyl-methionine, the major methyl donor) and a subsequent increase in histamine in the body.
It has also been observed that BH4 can also become depleted with a CBS upregulation. BH4 helps regulate neurotransmitters and mood. COMT +/+ and or VDR -/- individuals will have higher dopamine and BH4 levels and may get ill less frequently, but will be more sensitive to methyl cycle intermediates, which could increase dopamine too much, causing irritability/erratic behavior. For other mutations (such as MTHFR A1298C), chronic bacterial infections and aluminum can also lead to low BH4 levels. Lack of BH4 can lead to mast cell degranulation and possibly mast cell activation disorder (MCAD).
- Low vitamin B12 (It gets drained too quickly)
- Overload of detox pathways
- Food and chemical sensitivity
- Sulfite sensitivity
- Dairy intolerance (xanthine oxidase deficiency)
- Alcohol intolerance
- Ammonia build-up- neuronal problems and brain fog
- Heavy metal toxicity
- Chronic infections
- Chronic pain
- Depression/mood issues
- Leaky gut
- Increased cortisol
Note: If symptoms occur after beginning to use nutrients that contain methyl donors, this indicates there is pressure elsewhere in the methylation cycle. Find the other “blocked” pathway where there is a genetic variant and this will relieve pressure here. It will do its job of detoxifying efficiently and gently. If there is also a SUOX SNiP be ultra sure that this pathway is balanced.
Diet and Lifestyle Recommendations:
Avoid sulfur-containing foods such as garlic, onions, and cruciferous vegetables (broccoli, cauliflower, kale, etc.) until the pathway is cleared. Avoid sulfites in foods (preservatives).
Kinesiology Challenge Vials:
- Toxic Metals
- Angiotensin II
- Methyl Donors (SAMe, TMG, DMG)
- Molybdenum Chelate
- NAC Renew
- Pantothenic Acid
- Niacin B-6
- Phyto Renew
- Selenium Chelate
- Total L-Carnitine
- Pantothenic Acid
- Heavy metal detox support
- Careful of B6!! (It speeds up this pathway)
- Supplementation with molybdenum to stimulate SUOX high doses may be necessary. Homogenized dairy products contain xanthine oxidase, which further depletes molybdenum, and should be avoided if molybdenum levels are low.
- GABA may help neutralize excitotoxin activity when there is excessive alpha-keto-glutarate being produced.
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Specific Genetic Variants (SNiPs) | Aralkylamine N-acetyltransferase
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