What is a Butyrylcholinesterase Deficiency?

Butyrylcholinesterase is a mouthful, so we’ll call it BCHE or Buche, from the gene it’s coded by. This is one of our cholinesterase enzymes, needed to detoxify.

Most of you know about digestive enzymes, but our bodies also produce a lot of other types of enzymes, that help our bodies function correctly. These enzymes are coded by our DNA. If our DNA has a genetic variant or mutation, it may not produce the needed enzymes and this can be considered a genetic disorder.

I had my first DNA test prior to starting IVF for infertility. The test was for family planning to determine if we had any genetic disorders we could pass down to our children. I was contacted by the geneticist and informed that I have one of the genes for Pseudocholinesterase Deficiency on the BCHE gene. (Pseudocholinesterase is another name for Butyrylcholinesterase) She told me it was nothing to worry about, and it may only affect me if I have surgery with certain types of anesthesia. She said to just let the anesthesiologist know, and they know what to do.

I have a lot of health problems. If this BCHE deficiency is the only genetic disorder I have, then is there more going on? Just to be sure I wasn’t missing anything, I Googled it, and it led me to several web-sites that talk about anesthesia problems. In a nutshell, there are several types of anesthesia that can be used in surgery. The BCHE deficiency causes a sensitivity to certain muscle relaxants – choline esters: succinylcholine and mivacurium. This particular issue with BCHE deficiency is well studied because people were going brain dead. Those of us with the BCHE variant were unable to wake after surgery. It turns out we need breathing assistance until we can clear the drug from our body.

This is not the ONLY issue this BCHE deficiency causes, but it was the only one I saw. I didn’t realize this until years later when I rediscovered the BCHE gene in my raw DNA data. It was referred to A-Typical BuChe. This led me to SNPedia and Anne Wright’s work.

According to SNPedia & Anne Wright, this genetic variant creates a sensitivity to not only choline esters, but also cholinesterase inhibitors or CIs. Anne Wright, an MIT engineer, explains this well in her blog. This is a must read if you want to wrap your head around this.

The other issues are not well studied and the full function of BCHE is not well known. What we do know is BCHE is a scavenger or detoxing enzyme. It protects Acetylcholinesterase enzymes – another mouthful, so we’ll call those ACHE enzymes, after the gene they are coded by. ACHE enzymes breakdown and balance the neurotransmitter Acetylcholine. If our BCHE is too low, it can’t protect ACHE, and it can’t breakdown and balance Acetylcholine. Then Acetylcholine goes too high and builds up. The other neurotransmitters like dopamine, go too low. This is not a good thing. Some of the issues this can cause muscle spasms (pain), anxiety, insomnia, neurological pain, arthritic pain, migraines, digestive problems, and fatigue, just to name a few.

You can also develop an Acquired Butyrylcholinesterase Deficiency. This means, you do not need to have the genetic variant to have the BCHE deficiency. You can acquire the BCHE deficiency from the following:

• Exposure to chemical pesticides & herbicides
• Exposure to Sarin gas (Gulf War Syndrome)
• During hormonal changes like with pregnancy or on birth control. Menopause isn’t studied with BCHE deficiency, but many of our group members became sensitive to nightshades during menopause.
• Liver or kidney disease
• Chronic infections
• Certain cancers
• Malnutrition
• Severe burns
• Cocaine addiction
• Certain prescription drugs
• Solanine / Nightshades – from eating too many nightshades, especially with high alkaloid content like potatoes with green on them.

I believe our gut health and oxalates could also be an issue with BCHE. If our gut health is impaired, we may not have enough Oxalobacter formigenes to break down oxalates in gut. Oxalates then put stress on our liver and kidneys and impair glutathione needed for detoxification. Taking antibiotics can destroy oxalobacter formigenes and cannot be replenished with probiotics. If this is what has happened to your gut, avoiding oxalates, may be beneficial. Many nightshades happen to also be high in oxalates. Sally Norton, has done extensive work researching oxalates and she’s explained them well in her book, Toxic Superfoods.

For many of us with this genetic BCHE deficiency, we did not develop the extreme sensitivity to nightshades, until one of these other factors were in play. For me personally, pregnancy is what triggered my sensitivity to nightshades. However, I know I was reacting to it before pregnancy, it just wasn’t as intense.

So what are nightshades?  Plants in the nightshade family include tomatoes, peppers, potatoes, eggplant, goji berry, and tomatillo. Also the spices, starches, and food additives made from them. I’ve written a more complete list here.

Nightshades have a toxic glycoalkaloid, but well just call them alkaloids. They are a natural pesticide in the plant. Our bodies require the same enzymes to detox them as chemical pesticides and herbicides. They are all called cholinesterase inhibitors (CIs). In other words, the enzymes needed to detoxify the alkaloids and chemical pesticides/herbicides, are lowered, the more you are exposed.

The level of alkaloids in nightshades can vary greatly. This makes it hard to narrow down nightshades as the trigger for your symptoms. It’s known that potatoes with green on them have high level of alkaloids and they have killed people. Not everyone will die from eating potatoes with green, those of us with the BCHE deficiency are likely the ones to die from them. They have not studied how nightshades with lower levels of alkaloids can affect us with this deficiency. Those of us who’ve identified the genetic variant and are reacting to nightshades, know that eating any nightshades is a problem for us. We’ll talk more about this in another blog post.

Recent studies in mice have shown BCHE is also responsible for processing fats and proteins. It’s also involved in fat accumulation and the hunger hormone ghrelin. Mice with low BCHE can live completely normal, healthy, fertile lives until drugs are introduced. BCHE knockout mice (mice with no BCHE) became obese on the same diet as normal mice. I found this applied to my experience with eating nightshades on a plant based diet. I’ll talk about this in a future post.

Recent studies have also shown people with low BCHE are at higher risk of death from certain cancers, covid, and sepsis. The latest study on SIDS has shown that babies who died of SIDS had low BCHE at birth. The study did not say if these babies had the genetic variant or if the mother had the genetic variant or if the mother had low BCHE enzymes.

So how do you find out if you have the genetic variants or an acquired deficiency? I will write about that in the next article.

I will also be writing about nightshade allergies, mast cell issues related to nightshades, as well as oxalates. Yes, I have ALL of these reactions to nightshades, and it took a long time to figure out the differences between all these reactions.

Originally, I wanted to repair my BCHE deficiency and eat nightshades again. But I’ve decided that my body is obviously trying to tell me not to eat them. I’m okay with that now and I’ve found a diet that works better than any of the other dozens of diets I’ve been on over the years. I am happy, satiated, and most of my chronic auto-immune like symptoms are all gone.

That’s BCHE in a nutshell. Hopefully more studies will be done. For now, we can be thankful for knockout mice. Stay tuned to learn more!

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)