COMT (Catechol-O-Methyltransferase) – helps to methylate dopamine, serotonin, norepinephrine. Essentially slows down or regulates production of these neurochemicals.

• COMT V158M (-/-) = no mutation – indicates that the enzyme works too efficiently and will use up resources of methyl groups (CH3), ie. available chemical currency.

• COMT V158M (+/-) = heterozygous. Partial defect in system = partial ability to use up CH3 groups. Will be able to handle some methylating supplements, ie. Methyl-12, SAMe, Theanine, DMG.

• COMT V158M (+/+) = homozygous mutation. Both genes are affected.
Significant defect in system. This indicates that the enzyme works sluggishly. Essentially slows down methylation of above listed brain chemicals. In some situations is a better scenario for an autistic child because they will tend not to use up excess methyl groups (chemical currency). Will need to be careful with too many methylating supplements, ie, Methyl-B12, SAMe, Theanine, DMG/TMG. The overuse of these supplements could cause over stimulating leading to hyperactivity, irritability, erratic behavior, etc.


MTRR (Methionine Synthase Reductase – MSR) – is necessary to
regenerate Methyl-B12 so a constant supply of homocysteine can be converted to methionine. Defect = DECREASED enzyme activity which is not ideal.

• MTRR A66G (-/-) = no mutation.

• MTRR A66G (+/-) = heterozygous mutation. Partial defect in system – will need to be cautious with too many methylating substances. – Alec shows homozygous (both genes affected) mutation in this enzyme complex. This translates into decreased ability to regenerate Methyl-B12.

• MTRR A66G (+/+) = homozygous mutation. Both genes are affected. This mutation DECREASES function of enzyme. Definitely need Methyl-B12 – even if COMT ++ (which usually indicates a possible intolerance to methylating


MTHFr C667T (Methylene Tetrahydrofolate Reductase) – helps to convert homocysteine to methionine in the methylation pathway. This enzyme pathway has global effects for immune function, muscle metabolism, neurochemical production and regulation, and detoxification.

• MTHFr C667T (-/-) = no mutation – enzyme works efficiently to convert homocysteine to methionine.

• MTHFR C677T (+/-) = heterozygous mutation. Partial defect in system, ie. one gene is affected.

• MTHFr C677T (+/+) = homozygous mutation. Both genes affected. The enzyme systems works very sluggishly which significantly impairs the process of methylation.

MTHFr A1298C (Methylene Tetrahydrofolate Reductase) – helps to convert BH2 to BH4 for serotonin and dopamine production. Also, has an assistance effect on ammonia detoxification, and protects against too much histamine (stimulates allergic reactions, over- production of stomach acid).

• MTHFr A1298C (-/-) = no mutation – enzymes works efficiently to help with the balance of dopamine and serotonin production, as well as its related ammonia detoxification and histamine lower effects.

• MTHFr A1298C (+ -) = heterozygous mutation. Partial defect system. This translates into a partial problem with A1298C’s function – particularly important when considering the balance of dopamine and serotonin which can increase the propensity for mood swings and non-yeast, non-clostridia (intestinal bacteria) stimming behavior from too much ammonia.

• MTHFr A1298C (+/+) = homozygous mutation. Both genes affected. The enzymes system works very sluggishly which significantly impairs the conversion of BH2 to BH4 and it related effects.


I was reading too much of regular B12 or folic acid can acutally be toxic for someone who has these homozygous, heterozygous mutations. So it might be worth while to take this test before starting on B12 or B9 supplements.