Understanding BCHE Deficiency
Butyrylcholinesterase (BCHE or BuChe) is a mouthful, but this essential enzyme plays a crucial role in detoxification. Produced by the gene of the same name, BCHE is one of our cholinesterase enzymes, which are critical for maintaining a healthy balance of neurotransmitters and protecting against toxins.
While digestive enzymes break down food, other enzymes like BCHE serve broader purposes, from breaking down toxins to regulating important chemical pathways in the body. Genetic variants or mutations in the BCHE gene can reduce or impair the production of this enzyme, leading to health challenges.
My Journey with BCHE
I first discovered my BCHE deficiency during genetic testing for family planning before undergoing IVF. The geneticist informed me I carried a BCHE variant associated with Pseudocholinesterase Deficiency. She reassured me it was primarily a concern during surgery involving certain anesthetics, and to just let me anesthesiologist know.
A few years later, as my health problems got worse, I used my raw DNA data from 23andMe to see if I could find more genetic variants. I rediscovered the BCHE gene and found more information on SNPedia:
“Atypical” BChE has a low affinity for cholinesterase inhibitor alkaloids naturally occurring in certain plants, particularly those in the nightshade family (potato, tomato, peppers, eggplant, etc.). rs1799807(G) carriers may be more prone to physiological consequences of AChE inhibition from eating these foods.
Many pesticides are cholinesterase inhibitors, including organophosphates and carbamates. rs1799807(G) carriers may have atypical reactions to pesticide residues on foods and in the environment.”
My garden was full of nightshades and I live next to a farm that sprays their crops. Could this be why my health declined so much in the past year? My diet did not include gluten, dairy, and seed oils, but I consumed a lot of nightshades. I replaced dressings with salsas, I put salsas on my eggs every day, I used nightshade spices in all of my cooking.
I immediately eliminated nightshades from my diet and found great relief. I was able to open baby bottles, unbuckle car seats, and even started exercising again. I found relief from anxiety and was sleeping better. I dug a little more and I found Anne Wright‘s work describing a sensitivity to cholinesterase inhibitors and related genetic variants.
Anesthesia and BCHE Deficiency
BCHE deficiency can cause sensitivity to muscle relaxants such as succinylcholine and mivacurium, commonly used during surgery. These drugs rely on BCHE to metabolize them. Without enough BCHE, patients can experience prolonged paralysis and require mechanical ventilation until the drug is cleared from their body.
This serious complication has made BCHE deficiency well-documented in anesthesiology, but its broader health implications remain less understood.
Beyond Anesthesia: Other Issues with BCHE Deficiency
BCHE doesn’t just metabolize anesthetics. It also helps regulate acetylcholine, a neurotransmitter essential for muscle contractions, memory, and other functions. Low BCHE activity allows acetylcholine to build up, potentially leading to symptoms like:
- Muscle spasms
- Anxiety
- Insomnia
- Digestive issues
- Fatigue
Note: In severe cases, such as acute exposure to cholinesterase inhibitors or inherited BCHE deficiency, these symptoms can be pronounced and debilitating. In chronic or milder cases, such as acquired BCHE deficiency due to lifestyle or environmental factors, symptoms may manifest more subtly or intermittently.
Additionally, BCHE serves as a “scavenger enzyme,” supporting acetylcholinesterase function by regulating acetylcholine levels and protecting the body from harmful substances like pesticides, herbicides, and the glycoalkaloids in nightshades (e.g., potatoes and tomatoes).
Acquired Butyrylcholinesterase Deficiency
BCHE deficiency isn’t always genetic. It can develop due to:
- Chemical exposure: Pesticides, herbicides, and Sarin gas
- Health conditions: Liver or kidney disease, chronic infections, certain cancers
- Lifestyle factors: Hormonal changes (e.g., pregnancy, birth control), protein malnutrition, cocaine addiction
- Dietary triggers: Nightshades (rich in toxic glycoalkaloids)
Oxalates and BCHE Dysfunction
When I eliminated nightshades in my diet, I unknowingly increased another plant toxin, oxalate. While all plant foods have oxalate, some have a lot more than others, like spinach and almonds. Oxalate makes acetylcholine dysfunction worse and contributes to BCHE-related challenges.
- Gut Health Disruption: Antibiotics often destroy Oxalobacter formigenes, a beneficial gut bacteria that helps break down oxalates. Reduced Oxalobacter formigenes levels mean oxalates accumulate, placing stress on detoxification pathways.
- Glutathione Depletion: Oxalates can deplete glutathione, a vital antioxidant that supports detoxification. Low glutathione levels impair BCHE activity, worsening the imbalance in acetylcholine levels.
- Neuromuscular Impact: Oxalates bind to calcium, interfering with neuromuscular signaling and potentially contributing to muscle tightness, spasms, and nerve irritation.
- Tissue Accumulation: Accumulated oxalates in tissues can provoke inflammation, intensify pain, and exacerbate chronic symptoms, further straining the body’s ability to manage BCHE deficiency.
Recent BCHE Studies
Animal studies have revealed fascinating insights:
- BCHE knockout mice (lacking BCHE entirely) became obese on experimental high-fat diets. Researchers suggest these diets may differ from typical human diets or include fats to which mice are unaccustomed.
- Low BCHE activity has been linked to increased risks of obesity, drug addiction, and metabolic disorders.
- Other studies associate low BCHE levels with higher mortality rates from cancer, COVID-19, sepsis, major cardiac events, and trauma.
Diagnosing BCHE Deficiency
Most people discover BCHE deficiency only after complications with anesthesia. I was told anesthesiologists know what to do, even if you haven’t been diagnosed, but we have a member in our group that woke up in the morgue.
Eating for BCHE Deficiency
Initially, I hoped to overcome my BCHE deficiency to reintroduce foods like nightshades into my diet. However, I’ve learned to listen to my body and avoid high-oxalate and cholinesterase-inhibiting foods altogether.
Key Dietary Takeaways:
- Lipid Metabolism: BCHE plays a role in fat metabolism. Diets high in unhealthy fats, such as seed oils, may exacerbate issues.
- Carbohydrates: Excessive carbohydrate intake may disrupt BCHE balance, worsening metabolic conditions.
- Protein: High-protein diets help maintain BCHE balance, but beware of plant-based protein sources like pea protein, which inhibit cholinesterase.
Final Thoughts
BCHE deficiency is more complex than its initial discovery in anesthesia research suggested. Its role in metabolism, detoxification, and neurotransmitter regulation opens the door to new possibilities for understanding and managing related health conditions.
For those affected, understanding and supporting BCHE activity through diet and lifestyle can be life-changing.
Stay tuned for more on diagnosing and managing BCHE deficiency!
If you’d like to learn about oxalate, Sally Norton’s book, “Toxic Superfoods,” explains this well.
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Do you have a BCHE deficiency? Join our Facebook group.
NEXT: How to Search Raw DNA Data Files for BCHE Variants
References:
- A-Typical BCHE
- Cholinesterase Inhibitor Sensitivity Genes
- Natural inhibitors of cholinesterases: implications for adverse drug reactions.
- Butyrylcholinesterase: A Multifaceted Pharmacological Target and Tool
- Long-Chain Acylcholines Link Butyrylcholinesterase to Regulation of Non-neuronal Cholinergic Signaling
- Poison Control – Potatoes
- Gulf War Syndrome
- Pseudocholinesterase Deficiency
- Cholinesterase Inhibitors – Continuing Education | ATSDR (cdc.gov)
- Butyrylcholinesterase is a potential biomarker for Sudden Infant Death Syndrome – eBioMedicine (thelancet.com)
- Tropane Alkaloids: Chemistry, Pharmacology, Biosynthesis and Production – PMC (nih.gov)
- Occurrence and Chemistry of Tropane Alkaloids in Foods, with a Focus on Sample Analysis Methods: A Review on Recent Trends and Technological Advances – PMC (nih.gov)
- Butyrylcholinesterase and lipid metabolism: Possible dual role in metabolic disorders – ScienceDirect
- Norton, Sally K. Toxic Superfoods: How Oxalate Overload Is Making You Sick–and How to Get Better.
- Cholinergic System Overview: Taylor, Palmer. “Anticholinesterase Agents.” In Goodman & Gilman’s: The Pharmacological Basis of Therapeutics, edited by Laurence L. Brunton, John S. Lazo, and Keith L. Parker, McGraw-Hill, 2006.
- Role of Acetylcholine in the Body: Soreq, Hermona, and David Seidman. “Acetylcholinesterase—new roles for an old actor.” Nature Reviews Neuroscience 2.4 (2001): 294-302.
- Enzyme Deficiencies and Genetic Disorders: Scriver, Charles R., et al. The Metabolic and Molecular Bases of Inherited Disease. 8th edition. McGraw-Hill, 2001.
Nice explanation. Just adding in another nightshade source: ashwagandha sometimes found in health supplements.
Jen, you are right – I intended to link to my more detailed article about nightshades. I will add the link. Thanks for pointing it out.
Are there other ways to get your raw DNA? A professional?
I’ve had DNA testing order by doctors, but they do not release the raw data. You could ask for your doctor to order DNA testing on the BCHE gene if you are curious about it, but insurance may not pay for it. My doctor recently ordered testing for EDS genes and my insurance denied it. Now I’m stuck with a $2000 bill.
You are a very intelligent individual!