MTHFR Mutation in 9 Year Old Boy - Dr Ben Consult

Great news that this child was diagnosed with MTHFR mutation. My hat is off to the physician who say the potential for the MTHFR and caught it. It is great news as this child could have gone through most of his life without knowing he had the MTHFR mutation setting him up for an early cardiovascular event or pulmonary embolism or other related issue due to elevated homocyteine levels.

Summary of recommendations for the homozygous MTHFR mutation in the C677T position:

• Reduce as much potential toxin exposure as possible
• Reduce homocysteine levels using a complex of L-5-MTHF (active folate), B2, TMG, B12, B6. HomocysteX is a formula developed by Seeking Health which contains all these nutrients. This formula arrives in 2 weeks maximum from 8/30/2011. The current formula for HomocysteX contains L-5-MTHF, B12 and B6 which is still superior to just L-5-MTHF alone in reducing homocysteine levels. Consider taking 1 capsule of HomocyteX in the AM and one more capsule in the afternoon. Monitor the homocysteine levels via a homocysteine laboratory test and then adjust the dose of HomocysteX accordingly.
• Given the history of Clostridium difficile (c diff) and the many uses of antibiotics due to bad baby teeth and cellulitis, it is highly recommended to provide 2 capsules of Saccharomyces Boulardii by Seeking Health in the AM and PM with or without food to help combat the clostridium difficile and other potential harmful microbes that are present in his digestive system. Take for 1 to 2 months and then stop altogether. Saccharomyces Boulardii is just taken temporarily and is not to be taken long term.
  • It is also a must to take ProBiota 12 Powder to repopulate the digestive system with billions of beneficial bacteria. Start with 1/4 teaspoon of ProBiota 12 Powder directly by mouth after brushing teeth in the evening before bed. Do nightly until gas and bloating is minimal. Then increase to 1/2 teaspoon for another two weeks. After this, reduce to taking 1/8 teaspoon after brushing teeth and stay on this long term to support healthy digestion, immune system and absorbing numerous toxins from the environment.
• Flagyl was given to help combat the clostridium difficile. There are numerous side effects from Flagyl and one is peripheral neuropathy. I am not sure why doctors keep giving Flagyl for C Diff as Flagyl is intended for amoeba infections - not bacterial. C Diff = bacterial infection - not amoeba.
• The child has weak grip strength, fibromyalgia-like symptoms and sudden fatigue after exercise. Lab tests do not show anemias so I am assuming weak mitochondrial function which is causing the boys weakness - along with toxicity from Flagyl and pathogenic bacteria and lack of absorbing nutrients from food.
  • Nutrients needed to encourage proper mitochondrial function and increase endurance and energy are:
    • L-Carnitine may be needed but before you try it, let's try the other things first. If Carnitine is needed, consider giving 1 capsule once a day first thing in the AM before food.
    • D-Ribose Powder: consider 1 scoop in a bottle of water and have him drink it throughout the day. Mixed with 1/2 scoop of L-Glutamine Powder is a good idea as this will be a great combination to support healing his small intestine lining and muscle energy at the same time.
    • Active CoQ10: one of the main energy producers of the body. Consider taking 1 capsule with any meal of the day. Two capsules may be needed daily but try one a day first. They are small gel caps so easy to swallow. Always take CoQ10 with food.
    • B Vitamin Complex to support the full Kreb's cycle and get cellular energy production moving. A deficiency in ANY B vitamin can cause the entire cellular energy production to be ineffective and lead to weakness, fatigue and symptoms. Consider taking 1 capsule of B Complex Plus by Seeking Health in the AM. This is a water soluble nutrient so it is easily absorbed - especially given the highly absorbable forms used in the formula.
  • Weak grip strength is linked to low levels of Carnitine. Those who are gluten intolerant and Celiac also have low levels of Carnitine. The free fatty acids are also problematic so supplementing with high levels of EPA/DHA to protect cell membranes is needed. Carnitine helps shuttle the fatty acids into the right areas. Without carnitine, beneficial fatty acids do not work nearly as well.
  • Taking high doses of EPA/DHA are needed to protect the cell membranes against homocysteine, toxins in the environment and develop a strong healthy neurological system. Consider taking 1 to 2 capsules a day of Optimal Fish Oil capsules with food - take with any meal of the day. The capsule is easy to swallow. This fish oil capsule formula is quite potent which is needed in MTHFR mutations.
  • Epsom salt baths are a great idea. Visit www.SaltWorks.com to obtain large bags of Epsom Salt Use about 1 to 2 pounds per bath. Use vitamin C powder - about 2 to 4 grams per bath - to remove the chlorine from the bath water.
  • Keep using Molybdenum for the sulfite sensitivity but it may make more sense to take a complete multimineral formula to ensure he is getting all of the main ones. Trace Mineral Complex by Seeking Health uses chelated minerals which are easy to absorb. Trace Mineral Complex contains 200 mcg of chelated Molybdenum as well. Combined Trace Mineral Complex, ProBiota 12 Powder and B Complex Plus, the sulfite allergy should reduce. Consider 1 capsule a day of Trace Mineral Complex with food any time of day - it doesn't matter when. Night time may be best as it is away from all other vitamins and mineral complexes typically help one sleep.
  • Avoid Wheat
  • Cradle cap is due to Biotin deficiency, beneficial bacterial deficiency and immune weakness. I recommend testing your child's Vitamin D3 level as well. Consider 1 capsule of Biotin for 2 weeks and then stop.
  • Check your son's vitamin D3 levels. If low, supplement 1,000 IU per 50 lbs of body weight daily with food. Each DROP of Liquid Vitamin D360 contains 2,000 IU of Vitamin D3. It is very easy to give Vitamin D360 to anyone as it tastes just like olive oil as it is in a base of olive oil.
  • Talk with your doctor about the Pediatric ION Panel by Metametrix A sample Pediatric ION Panel report is here so you can see what it provides. The results take an hour or more for me to go over and then a follow up consult is needed.

Any questions, do post below or email me.

In health,

Dr Ben

DISCLAIMER: All information provided here is purely informational and is not meant to diagnose, treat or prescribe. Do consult your physician for all such matters.