Why We Don’t Routinely Test for MTHFR Gene Variants or Heavy Metals

As parents, it’s natural to want the best for your child’s health. You may have heard about MTHFR gene variants or heavy metal testing and wondered whether your child should be tested. There is a lot of information online and in adult medicine, sometimes parents are tested, and it can be confusing.  As pediatricians, we do not routinely recommend these tests, and here’s why.  

Understanding MTHFR Gene Variants  

MTHFR (methylenetetrahydrofolate reductase) is a gene that helps the body process folate (Vitamin B9), which is essential for cell growth and metabolism. Everyone has two copies of this gene, and variations in the gene are common—about 40% of people have one. A variant may slightly decrease the body’s ability to process folate, but in most cases, the body still processes enough for normal function.  

Most people with an MTHFR variant do not experience any symptoms or health issues, which is why routine testing is not useful. There is no specific treatment for having an MTHFR variant, and knowing your status does not change medical care. The more meaningful test, if someone has concerning symptoms, is a homocysteine level, as MTHFR-related issues only become relevant if homocysteine is elevated. However, this is still very rare in children.  

Should my child be tested for MTHFR Gene Variants?

Based on guidance from the American Academy of Pediatrics (AAP), MTHFR testing is not recommended in children because it does not provide useful or actionable medical information for children. Variations in the MTHFR gene are very common in the general population and, by themselves, do not cause disease. Knowing whether a child has an MTHFR variant does not change medical management, does not predict health problems, and does not guide treatment. Research in pediatrics has shown that MTHFR variants are not a cause of developmental delays, behavioral concerns, anxiety, ADHD, autism, or most other medical symptoms. They also do not reliably predict blood clot risk in children. Because of this, testing can create unnecessary worry without providing any information to help a child. We specifically recommend not testing for MTHFR in children, even when parents have been tested or when there is a family history and instead we focus on symptoms that a child does have and things we can test or do that are helpful and guide us to decisions that can benefit children. Additionally, even when an MTHFR variant is present, children with a normal diet do not need special supplements or treatment beyond standard age-appropriate nutrition.

Should I Give My Child More Folate?  

If your child has no symptoms or folate deficiency, there is no need to supplement with extra folate as a precaution. A well-balanced diet that includes vegetables, fruits, whole grains, lentils, beans, and fortified cereals provides enough folate for healthy development. If your child is ever found to be deficient, your pediatrician will guide you on the right approach.  

Heavy Metals and Children’s Health  

Heavy metal exposure can be concerning, but routine testing for metals like mercury, arsenic, and cadmium is not recommended unless there is a clear risk factor or symptoms. These exposures are rare, and our daily environment contains only trace amounts that the body naturally eliminates.  

To reduce unnecessary exposure, parents can take simple precautions:  

  • Wash fruits and vegetables thoroughly.  
  • Avoid excessive fruit juice consumption, as some juices have been found to contain small amounts of heavy metals.  
  • Provide a variety of foods to prevent overexposure to any single source.  
  • Ensure your drinking water is safe by checking with your local health department.  

 

Heavy Metals in Vaccines  

Some parents worry about heavy metals in vaccines, but routine childhood vaccines do not contain harmful levels of heavy metals. Thimerosal, a mercury-based preservative, was removed from most vaccines in the early 2000s, and the trace amounts used in some multi-dose flu vaccines (our office uses single dose prefilled syringes) have not been shown to cause harm. The benefits of vaccines in preventing serious diseases far outweigh any theoretical risks from minimal exposure.  

Lead Exposure and Testing  

Unlike other heavy metals, lead exposure remains a real concern in certain situations. Children are routinely tested for lead exposure at 1 and 2 years old, or later if they are at risk. Risk factors include:  

  • Living in a home built before 1978 with chipping or peeling paint.  
  • Using imported pots, pans, or toys that may contain lead-based coatings.  
  • Having a caregiver who works in jobs with lead exposure, such as construction or battery manufacturing. 

If you are concerned about lead in your home, talk to your pediatrician about testing and prevention strategies.  

Final Thoughts  

We understand that navigating health information can be overwhelming, and we are here to support you. While MTHFR variants and heavy metals are widely discussed online, routine testing is not needed in most cases. If you ever have concerns about your child’s health, we encourage you to reach out. We are always happy to discuss evidence-based guidance to help your child grow up healthy and strong.

Heart-Healthy Habits for Kids

When we think about the risk for heart disease, we often think about it as something for adults to be concerned about. But did you know that the risk for heart disease can start as young as the childhood years? To minimize future heart disease risk, it’s important to make sure that your child is following heart-healthy habits for lifelong wellness. Teaching children good health practices, like eating a well-balanced diet and staying active, helps lay the foundation for strong cardiovascular health into adulthood.

To start with, one of the most impactful ways to ensure heart health is a nutritious diet that is rich in nutrients and low in ingredients that can harm your child’s heart over time. A diet full of fruits, vegetables, whole grains, legumes, and lean proteins helps nourish growing bodies while keeping cholesterol and blood pressure in check. Foods high in saturated fats, added sugars, and sodium, commonly found in ultra-processed foods, should be limited, as these can raise cholesterol levels and increase future heart disease risk. A good example of how to think of your children’s meals is to have a colorful plate half-filled with veggies and fruits, choose whole-grain bread over white bread, and serve water or milk instead of sugary beverages. 

In addition to eating healthy, kids should get daily exercise. It is recommended that children and teens get at least 60 minutes of moderate to vigorous physical activity most days. Some ideas to keep kids active include taking a walk outside, running, riding a bike, dancing, playing sports, and swimming. Make sure to also limit sedentary screen time, like playing video games or watching TV, to encourage kids to stay active. 

Both eating a healthy diet and getting exercise helps kids manage weight so that their heart doesn’t have to work harder, which can contribute to conditions like high blood pressure, high cholesterol, and type 2 diabetes, all of which are linked to heart disease. If you’re unsure or concerned about your child’s weight or growth, talk with your pediatrician as they can help you understand what a healthy range looks like for your child’s age and build and how best to support them. Regular well visits are also the perfect time to check on cardiovascular indicators like cholesterol and blood pressure.

Some heart-related risks can be inherited. The American Academy of Pediatrics recommends that children with no family history of heart disease have cholesterol checks between the ages of 9 and 12. If close relatives have early heart disease or high cholesterol, it’s best to start screening as early as age 2. Early detection allows families and pediatricians to make changes that can dramatically reduce future risk. Understanding your family’s health history and sharing it with your child’s pediatrician can help guide personalized recommendations for screenings and lifestyle choices.

Beyond food and exercise, simple routines like ensuring good sleep, managing stress, and avoiding exposure to tobacco can also support heart health. A restful night helps regulate appetite and energy, while reducing stress keeps the body’s systems functioning well. Staying smoke-free and avoiding secondhand smoke protects children’s developing cardiovascular systems. 

Children learn best by watching the adults in their lives. If they see their parents choosing fruits and vegetables, being active, and valuing wellness, they are more likely to adopt these habits themselves. Making heart-healthy living a family effort, like cooking meals together or taking evening walks, makes it feel less like a chore and more like a fun part of daily life. 

If you have any questions about healthy lifestyle habits, screenings, or your family’s heart health, don’t hesitate to call our office. We’re here to support you in raising a healthy, thriving child!