SNPs and Autism

Dec 6, 2025
4 min read

WHY ARE SNPs important for my child with autism?

The perfect storm

The reason that there is an SNP section on this site is that certain SNPs have been identified that affect the enzymes that are critical to the body’s detoxification processes.

We know that these SNPs are extremely common in the autism population.

To give an example, genes code for enzymes to carry out important functions within the body (see the diagram below). These enzymes are part of a large cycle called methylation, with many different parts all having to work together to achieve a goal.

Let's say this goal is detoxification. When there is a SNP in the gene, the enzyme that the gene usually makes is impaired slightly, so it can't do its job of being part of the chain of events that result in detoxification.

This equates to an increase in the vulnerability to environmental toxins and certain nutrient deficiencies. Children with one or more SNPs that restrict their detoxification capacity may have a lower tolerance for environmental toxins – from chemical

exposures, EMF exposures, medications, stress, or other factors. They may reach their “total load” sooner. The total load theory I talk about HERE.

This is also why not all children are diagnosed with autism, even with the huge cocktail of exposures that all children of this generation face. In some children, genetics predispose them to having faulty detoxification pathways due to SNPs. This, coupled with multiple environmental insults from food, water, cleaning, self care, EMF, moulds, trauma, vaccines, etc. Results in an autism diagnosis. Usually, regression in early life. Note that they CAN - this doesn't mean they HAVE to. With the right nutrients and lifestyle modifications, mutations can be over-ridden and never need to impact health.

To give a brief example, the MTHFR gene codes for the MTHFR enzyme. This is important because it converts folic acid into usable methyl folate in the body. Methylfolate is required for all of the body's systems to work effectively because it is crucial for methylation. The MTHFR SNP is very common. If you eat leafy greens and get methylfolate that way, this one particular impairment can be overridden. It is much more complex than this. But can give a small insight into just how important diet can be for children with autism.

There are specific SNPs (see below) that are known to be extremely common in children with autism. All of which impact the crucial detoxification pathways in the body and processing of important neurotransmitters, which impact sleep, speech, regulation of behaviour, etc. It is important to note that SNPs are NOT the main driver of genetic expression. Epigenetics, or in other words, the environment, is. Epigenetics is what controls how your genes are turned on or off. How environmental influences such as diet and toxins, impact genes. Read more about epigenetics HERE.

This perfect storm theory of how a child ultimately results in an autism diagnosis is one I have enjoyed learning about so much. It integrates the 'Total Load' Theory - whereby a body is repeatedly exposed to environmental insults to the point where illnesses and diagnoses ensue. It rings true to me, and I know many other parents that I have connected with on this journey.

Having this knowledge has greatly improved the quality of my family's life.

The perfect storm is the cause of most, if not all disease and diagnoses of today.

It posits that;

TOXIC EXPOSURE + POOR DETOXIFICATION PATHWAYS = AUTISM/ OTHER DIAGNOSES

Click HERE for more info on toxins

I know it seems crazy and a lot for you to get your head around if you have been repeatedly told that your child's condition is only 'genetic' and nothing can be done. That is an extremely outdated viewpoint. There is so much to learn and understand about the ways in which we can help our kids.

The diagram below is a simplified view of what happens when there is an SNP present in genes that code for enzymes that are crucial for various functions. As you can see, the enzyme's function can be impaired.

Some common SNPs in children with autism....

MTHFR

Methylenetetrahydrofolate reductase

This gene initiates your body's ability to methylate.

SNPs in this gene are extremely common in children with autism and the wider population. It impairs the body's ability to methylate effectively because it impairs the body's ability to convert folic acid into usable methyl folate. It is also associated with neural tube defects, Alzheimer's, shizophrenia.

CBS

Cystathionine beta synthase

Catalyses the first step of the transsulfuration pathway. Converts homocysteine to glutathione. Important for detoxification and common in children with autism. SNPs can impair detoxification and cause increased ammonia and blood sugar issues. Impaired zinc/copper ratios.

Glutathione is usually depleted in children with autism and is crucial for detoxification.

GST

Glutathione S Transferase

An enzyme that aids in detoxification.

SNPs can impair the body's ability to detoxify from exposure to heavy metals, solvents, pesticides, and herbicides.

Common in children with autism.

TCN2

Transcobalamin II

This protein transports cobalamin (also known as vitamin B12) from the bloodstream to cells throughout the body. SNPs can impair the transport of cobalamin from the bloodstream to cells throughout the body. SNPs in this gene are common in children with autism, as is B12 deficiency.

RFC

Reduced Folate Carrier

One of the key enzymes in the folate metabolism pathway. SNPs can impact methylation. And has been associated with autism.

GABRB3

Gamma-aminobutyric acid receptor subunit beta-3

This gene encodes a protein that serves as the receptor for gamma-aminobutyric acid GABA, a major inhibitory neurotransmitter of the nervous system. It is associated with epilepsy and autism.

SUOX

Sulfite oxidase

Detoxifies the body of sulphite groups by converting them to sulphate groups, with the help of molybdenum. SNPs in this gene can reduce sulphate levels, decreasing detoxification - see HERE for more info on this detox pathway.

COMT

Catechol-O-methyltransferaseBreaks down neurotransmitters such as dopamine.

SNPs can cause elevated dopamine levels, fewer methyl groups; implicated in ADHD, mood swings, and bipolar disorder.

MAO

Monoamine Oxidase A

Breaks down neurotransmitters such as serotonin and dopamine. This SNP is common in children with autism, and can cause OCD, violence and mood swings.