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CBS SNPs. Typically, methylation cycle mutations lead to decreased or impaired
enzyme function, but the CBS SNPs lead to increased enzyme activity (called
“upregulation”). What effects does this produce
The CBS enzyme is located right between homocysteine and the rest of the transsulfuration
pathway, where it acts as a gatekeeper. With this upregulation, the
“gate” is always open, sending all of the nutritional support used in this program
down a road that does not lead to glutathinone but instead depletes the rest of
the cycle. Instead of being directed to produce glutathione, which helps the body
to detoxify, our supports head out the open CBS “gate” into the transsulfuration
pathway, and may end up as harmful byproducts, such as excess ammonia and
sulfites.
Addressing CBS entails the following:
• Detoxifying ammonia
• Lowering excessive taurine levels
• Limiting foods and nutrients that contribute to ammonia or sulfites
• Supplying the body with nutrients depleted by this process
Since there is obviously no point in using supports only to have them drain out
via CBS and create ammonia and sulfites, all of these recommendations should
be enacted for at least four to six weeks prior to adding in other methylation
pathway supports. However, once you have been on the program to address CBS
for the above time period, you or your child will have potentially stored sufficient
intermediates to manage the problem once you begin other methylation supports.
However, it’s very likely you won’t be able to get just the right balance of
supplements until you have methylation supports in place. That’s when we get a
more complete picture of the interplay between CBS and other mutations. And
that’s why I recommend that you undertake concurrent biochemical tests regularly.
By doing so, you can fine tune your program. One thing is certain: anyone
following the program who has any of the CBS mutations should continue to
follow the CBS recommendations long term.
While you are doing the initial phase of the CBS recommendations, you can
implement the gut program (see the previous chapter) if you have not already
done so in Step One.
Balancing CBS
This is an overview of the CBS Protocol. For specific recommendations, based on
your Nutrigenomic test results, see recommendations by mutation in your MPA
report. Before you begin to add in supplements, I recommend that you get an
130 Autism: Pathways to Recovery