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Chapter 6. Step Two, Part One
• Increased ammonia
• Until we support the methylation cycle, we are not going to see the full
impact of the CBS upregulations.
BH4 Supplementation
Preliminary collaborative research is ongoing with a group of doctors in Japan
looking at the use of prescription BH4 to help to compensate for MTHFR
A1298C and CBS C699T+ mutations. The initial results are encouraging. Low
daily doses of BH4 (1.25 mg) initially appear to stimulate detoxification over the
first several weeks of use. After this initial detoxification effect, the BH4 appears
to have a very positive impact on language for individuals with CBS C699T+
mutations. It seems it is possible to restore BH4 stores through supplementation.
Monitoring CBS Status with Biochemical Tests
Because of the complexity of addressing CBS mutations, I recommend that people
regularly undertake biochemical tests to assess the current status/success of
the Ammonia Program. You can do a urine amino acid test (UAA) test at baseline
(prior to beginning the Ammonia Program), and follow up in six to eight
weeks. At that point, you should be ready to move ahead with methylation supports.
However, if you’re uncertain about that, the test results can help to clarify
the decision as to when to move forward with the rest of the program. Once you
begin to layer in the second priority supports, you should retest periodically to
assure that ammonia and taurine remain at desirable levels. You can adjust if they
are not. In the following section, you will see what to look for.
Indications of CBS Upregulations
Any of the following values on test results may be indicators for the CBS upregulation.
Changes in these values shown by periodic retesting after you begin
to layer in methylation support for second priority mutations will also help you
track your forward progress with CBS.
UAA Test
• Elevated taurine
• Elevated ammonia
• Decreased citrulline
• Decreased methionine
• Elevated phenylalanine
Autism: Pathways to Recovery
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