MTHFR & Methylation

Genetic variants silently affecting your health?

Functional medicine decodes your methylation profile — the critical biochemical pathway controlling energy, mood, detoxification, and hormone balance — and builds a personalised plan around your genetics.

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Sound Familiar?

Signs your methylation may be compromised

Methylation dysfunction doesn’t announce itself with a single symptom — it creates a pattern of seemingly unrelated issues that conventional medicine treats in isolation.

Chronic fatigue & low energy

Methylation drives cellular energy production. When it’s impaired, fatigue becomes constant and unresponsive to rest.

Anxiety, depression, or mood swings

Methylation converts nutrients into neurotransmitters. Poor methylation means serotonin and dopamine production suffers.

Chemical sensitivity

Strong reactions to perfumes, cleaning products, or medications. Your detoxification pathways are struggling.

Hormonal imbalances

PMS, estrogen dominance, or irregular cycles — methylation is essential for hormone metabolism and clearance.

Recurrent miscarriage or fertility issues

MTHFR variants affect folate metabolism, homocysteine levels, and DNA repair — all critical for healthy pregnancy.

Family history of cardiovascular disease

Elevated homocysteine from poor methylation is an independent risk factor for heart disease and stroke.

The Gap in Standard Care

Why your GP doesn’t test for MTHFR

MTHFR and methylation testing aren’t part of standard pathology. Most GPs aren’t trained in nutrigenomics and don’t recognise the pattern of symptoms that methylation dysfunction creates.

Functional medicine interprets your genetic variants in the context of your biochemistry, symptoms, and nutrient status — turning raw genetic data into a clinically actionable treatment plan.

MTHFR C677T / A1298C variants — reducing your ability to convert folate into its active methylated form
Elevated homocysteine — a cardiovascular and neurological risk marker driven by poor methylation
Undermethylation patterns — low SAMe production affecting mood, motivation, and histamine clearance
Overmethylation patterns — excess methyl groups creating anxiety, sensory sensitivity, and copper overload
Folate trap — taking the wrong form of folate when your body can’t convert it

“Recommended by GP for MTHFR malfunctions… trusts his ever up to date knowledge, communicates in easy to understand way, ensures optimal health through passion, guidance and wellness plan.”

— Jayne, Adelaide

Understanding Your Diagnosis

What’s the Difference Between Undermethylation and Overmethylation?

Methylation is a biochemical process that runs billions of times per second in every cell — influencing gene expression, neurotransmitter production, detoxification, and immune function. When methylation is disrupted by genetic variants like MTHFR, it can tip in either direction: too little (undermethylation) or too much (overmethylation). These two patterns produce very different symptom profiles and require different nutritional approaches — which is why knowing your MTHFR status alone isn’t enough.

Comparison table: Undermethylation vs Overmethylation
Feature	Undermethylation	Overmethylation
Estimated prevalence	Approximately 45% of the population; more common	Approximately 15–20% of the population; less common
Neurotransmitter tendency	Lower serotonin, dopamine, and norepinephrine activity — due to reduced recycling of these neurotransmitters	Elevated methyl groups may increase dopamine and norepinephrine activity; serotonin may be normal or elevated
Common mood pattern	Depression (often seasonal or chronic), OCD tendencies, perfectionism, high internal drive, low motivation	Anxiety, paranoia, hyperactivity, mood swings, depression with an anxious or agitated quality
Response to folate	Often benefits from methyl-folate and methylcobalamin (active B12) — supports the methylation cycle directly	May worsen with methyl donors — folate and methyl-B12 can increase symptoms; folate antagonists may be better tolerated
Histamine levels	Tends toward elevated histamine (histadelia) — histamine is broken down via methylation, so reduced methylation slows clearance	Tends toward low histamine (histapenia) — excess methylation may accelerate histamine breakdown
Associated nutrients	Low SAMe, low methionine; benefits from methionine, SAMe, B6, zinc, magnesium	Elevated SAMe; may benefit from niacinamide (B3), B6, zinc — these act as methyl buffers
Treatment direction	Support methylation with methyl donors; reduce dietary histamine if elevated; address nutrient co-factors	Buffer excess methylation; avoid methyl donors; support detoxification pathways; niacinamide as a key therapeutic tool

What this means for you

Knowing you have an MTHFR variant is just the starting point. Taking methylfolate without knowing whether you’re an undermethylator or overmethylator can make symptoms significantly worse — particularly anxiety and mood instability. A methylation panel alongside symptom mapping identifies which direction the imbalance runs, so support is targeted rather than generic.

The Process

A structured path from confusion to clarity

No guesswork. Every step is guided by testing, clinical experience, and a deep understanding of how your body’s systems interconnect.

Map Your Pattern

A comprehensive 90-minute initial consultation to understand your full history, symptoms, lifestyle, and what’s been missed. We identify the patterns that matter.

Test What Matters

In-depth pathology interpretation that catches what others miss — plus targeted functional testing when deeper answers are needed.

Build Your Plan

A personalised treatment protocol targeting root causes — nutritional support, gut restoration, nervous system regulation, and lifestyle recalibration.

Video coming soon

From Rohan

Understanding MTHFR & methylation from a functional perspective

In this short video, Rohan explains what MTHFR actually means for your health, the wrong forms of nutrients can make things worse, and how personalised methylation support can transform your wellbeing.

If you’ve had genetic testing but no one explained what to do with the results, this fills in the gaps.

Functional Testing

What we investigate

The specific tests and pathways we examine to build your personalised methylation profile.

MTHFR Genetic Panel

C677T and A1298C variant testing — the foundation for understanding your methylation capacity.

Homocysteine Levels

A critical marker for methylation efficiency and cardiovascular risk — often elevated when methylation is impaired.

Whole Blood Histamine

Distinguishes undermethylation from overmethylation — essential for choosing the right treatment approach.

SAMe & Methylation Cofactors

B12, folate (active forms), B6, zinc, and copper — the nutrients your methylation cycle depends on.

Organic Acid Profile

Maps downstream methylation metabolites, neurotransmitter metabolism, and detoxification capacity.

Comprehensive Nutrigenomics

Extended genetic panel covering COMT, CBS, MAO, and other methylation-related genes for a complete picture.

Common Questions

MTHFR & Methylation — Frequently Asked Questions

What is MTHFR and why does it matter for my health?

MTHFR is a gene that produces an enzyme responsible for converting folate into its active form, which drives a process called methylation. Methylation happens in almost every cell in your body — it’s involved in DNA repair, neurotransmitter production, detoxification, and inflammation regulation. Certain MTHFR variants slow this enzyme down, which can create vulnerabilities, particularly when combined with poor diet, high stress, or other nutrient deficiencies.

I’ve been told I have an MTHFR variant — does that mean I’m in trouble?

Not necessarily. MTHFR variants are extremely common — around one in three people carry at least one copy. Having a variant doesn’t automatically mean you’ll have problems; it depends on the specific variant, whether it’s heterozygous or homozygous, and how well your overall nutrition and lifestyle are supporting your methylation pathways. What matters more than the variant itself is whether your methylation is actually impaired — which is what we assess.

What does poor methylation actually affect in the body?

Poor methylation can contribute to elevated homocysteine (a cardiovascular and neurological risk marker), impaired detoxification, increased inflammation, disrupted neurotransmitter balance affecting mood, anxiety, and sleep, hormonal imbalance, and compromised DNA repair. It’s also closely linked to folate and B12 metabolism, so deficiencies in these nutrients compound the problem significantly.

Do I need to take methylated B vitamins, and are they safe for everyone?

Not everyone with an MTHFR variant needs methylated vitamins — and importantly, not everyone tolerates them well. Some people, particularly those sensitive to methyl groups, experience increased anxiety, irritability, or overstimulation when starting high-dose methylated B12 or methylfolate. The dose and form need to be matched to your specific presentation and homocysteine levels. This is one area where supplementing without guidance can make things worse, so we always assess before recommending.

How do I know if methylation is actually the issue causing my symptoms?

The most useful markers are plasma homocysteine, serum B12, active B12 (holotranscobalamin), and serum folate. Elevated homocysteine in particular is a strong functional indicator of impaired methylation, regardless of your MTHFR status. We look at the full pattern — genetics, bloodwork, and symptoms together — to determine whether methylation is a meaningful driver in your case.

Do I need a referral or prior genetic testing to book a consultation?

No referral and no prior genetic testing needed. Many people come with a 23andMe report and no idea what to do with it — that’s a completely normal starting point. Others come with symptoms and no genetic testing at all. Either way, we assess from scratch and build the picture from what we find. Book directly online. Telehealth available. See the Services & Fees page for consultation options and pricing.

Patient Experience

“Most impressed with his quick diagnosis by way of studying my blood results over previous year(s) and recent results. His highly skilled knowledge of functional medicine has been a contributary factor.”

— Josephina, Adelaide

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