Tag: homocystinuria

What Are the Signs of MTHFR Mutations?

Are you scared to vaccinate and protect your baby because you think she has signs of  MTHFR mutations?

What Are the Signs of MTHFR Mutations?

For some reason, some parents get concerned about MTHFR if their baby has:

  • a stork bite on the back of her neck (nevus simplex or salmon patch) – get it? that’s where the stork carriers the baby to you
  • a stork bite on the eyelids or forehead, although many people call it an angel’s kiss in these locations
  • a sacral dimple
  • a tongue-tie
  • any facial dimples
  • a strawberry hemangioma
  • a prominent blue vein on the bridge of her nose – called a sugar bug, because practitioners of traditional Chinese medicine think that it is linked to a sensitivity to sugar

And they somehow think that this a reason to delay or skip their child’s vaccines.

It isn’t.

Not surprisingly, none of the websites who list so-called signs of MTHFR mutations provide any evidence for why they are considered to be signs.

What Are the Real Signs of MTHFR Mutations?

If you are worried about MTHFR mutations, you have likely been warned that they cause a lot of different problems.

In reality, it is only known that MTHFR mutations can cause homocystinuria, a rare disorder of methionine metabolism. So you might expect those who have this mutation to have signs and symptoms of homecystinuria, including long limbs, chest deformities, and scoliosis, similar to Marfan syndrome.

Fortunately, many states now include testing for homecystinuria on their newborn screen.

Where Did the Other MTHFR Indicators Come From?

Some people also think that some common MHTFR polymorphisms, or gene variants, may be weakly associated with cardiovascular disease, migraines, anacephaly, spina bifida, and cleft lip and palate.

But this doesn’t mean that MHTFR mutations caused the child to have spina bifida or cleft lip and palate.

“In general, the following genotypes currently appear unlikely to be of clinical significance: “thermolabile” variant c.665C→T heterozygote, c.1286A→C homozygote, or (c.665C→T); (c.1286A→C) compound heterozygote.”

Hickey et al. on ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

These polymorphisms are very common and you are going to find them when you look for them.

More and more studies are now finding that they are not associated with any diseases or extra risk of disease. And any risk for neural tube defects in pregnancy can be eliminated by taking folate supplements, which is now recommended for all pregnant women anyway.

But you now should be able to see where their list of bogus signs of MTHFR mutations came from. If spina bifida is supposed to be associated with MTHFR polymorphisms, then why not sacral dimples? And if cleft lip and palate is supposed to be associated with MTHFR polymorphisms, then why not tongue-tie?

Neither a stork bite nor tongue-tie is a sign of a MTHFR mutation. Photo by Vincent Iannelli, MD
Neither a stork bite nor tongue-tie is a sign of MTHFR mutations. Photo by Vincent Iannelli, MD

What about stork bites, hemangiomas, facial dimples, and the blue vein?

These are some of the most common things that pediatricians point out to parents during their first few appointments. New parents especially what to be reassured that all of these things, which can be very obvious, are eventually going to go away. And fortunately, they typically do – without treatment, although some hemangiomas do require treatment.

In fact, it is estimated that 30 to 50% of newborns have a stork bite. These dilated blood vessels typically go away without treatment. How many people have MHTFR polymorhisms? Yup, 30 to 50%. And no, that doesn’t mean that MHTFR polymorhisms cause stork bites.

Again, since MHTFR polymorhisms are common variants (not mutations that cause disease), you are going to find them associated with many other common conditions.

“Midline lumbosacral skin lesions (e.g., lipomas, dimples, dermal sinuses, tails, hemangiomas, hypertrichosis) are cutaneous markers of spinal dysraphism. A comprehensive review of 200 patients with spinal dysraphism found that 102 had a cutaneous sign. However, many children without spinal dysraphism also have these skin findings.”

McLaughlin et al. on Newborn Skin: Part II. Birthmarks

It is also very possible that folks are misunderstanding a recommendation about warnings for risks of occult spinal dysraphism. This occurs when there is incomplete fusion of the midline elements of the spine, but they are covered by skin, so unlike spina bifida, they are hard to detect. So we look for things like hemangiomas, hypertrichosis (hairy patches), nevus simplex (stork bite), and dimples, etc., as a sign that something might be wrong underneath the skin.

In general, if you have two or more of these skin lesions, a child’s risk for occult spinal dysraphism would be considered high, but, and this is important, the location of the skin lesions is what we look for. They would be over the midline lumbosacral area (the lower back). So an hemangioma on your child’s arm or chest wouldn’t be a risk. Neither would a stork bite on the nape of a baby’s neck or an angel kiss on their forehead.

But now you see the assumed link to MTHFR!

‘They’ think  that MTHFR mutations cause spina bifida, so they made the jump to all of these possible signs of occult spinal dysraphism being associated with MTHFR polymorpisms too, even when they aren’t actually signs of occult spinal dysraphism unless they are located on your baby’s lower back.

“MTHFR gene mutations can cause absolutely no symptoms at all. They can also cause severe irreversible health conditions such as Down’s syndrome. Research is still pending on which medical conditions are caused by, or at least partially attributed to, the MTHFR gene mutations. From the partial list I recently went through on Medline, these are the current symptoms, syndromes and medical conditions relating to the MTHFR gene mutations:”

Ben Lynch on MTHFR Mutations and the Conditions They Cause

A lot of what folks think they know about MTHFR mutations comes from Ben Lynch, who has a doctorate in Naturopathic Medicine (ND), recommends that folks get genetic testing, and then tells them all of the things that are wrong with them when the tests come back.

“Many of your health issues spring from a combination of overworked and underworked genes. These issues can often be resolved by supporting your genes—but you don’t know that.”

Ben Lynch on My Mission: Reach Your Genetic Potential

And even smarter mission would be to skip the genetic testing, especially if it includes MTHFR testing, and get your family vaccinated and protected.

What to Know About Signs of MTHFR Mutations

There are no signs of MTHFR mutations that you should be looking for that would indicate you should skip or delay any of your child’s vaccines.

More on Signs of MTHFR Mutations