Grace Talbert

Mother of a child with Homocystinuria due to severe MTHFR deficiency

[Grace Talbert @talbertgrace]

@BornsteinRafael @markkaplan20 Homocystinuria can be caused by other genes as well. Severe MTHFR mentioned in the graphic is caused by true MTHFR mutations, not the two common polymorphisms.

[Grace Talbert @talbertgrace]

@RameseSanders There’s roughly 40 rare mthfr mutations that cause a rare metabolic condition called homocystinuria. These are true mutations. The two common mthfr variants do not cause homocystinuria.

[Grace Talbert @talbertgrace]

@honeybadgerleo @RobertKennedyJr Are you saying that mthfr should be added to the newborn screening panel? That is where PKU is screened. What marker would they check for if it was added to newborn screening?

[Nephi Walton @geneticks]

Great poster! No more MTHFR testing - clinical genetics most hated gene (except for in homocystinuria). To understand the problem I give you the “MTHFR challenge” try to do a search in PubMed for any disease and MTHFR that doesn’t return an association.

[Grace Talbert @talbertgrace]

https://t.co/JR7bPO63US

#homocystinuria
#severeMTHFR
#Cakes4Carson
#RaceforResearch

[Grace Talbert @talbertgrace]

@hormonedietdoc My daughter (3) has high homocysteine. It’s over 70.

[Grace Talbert @talbertgrace]

@TheYueLab @NatureComms @nubiosciences @allostericstate @LinneaBlomgren @FroeseLab Exciting news! As the mother of a 3 year old with Homocystinuria due to severe MTHFR deficiency, I’m curious how this knowledge can impact future treatments.

[Grace Talbert @talbertgrace]

@RMorgayne11 @helt_helt @stopvaccinating My daughter has the rare mutations. We used a genetic test through her geneticist.

[Grace Talbert @talbertgrace]

@helt_helt @RMorgayne11 @stopvaccinating If you have one or both, they’re still just considered variants.

[Grace Talbert @talbertgrace]

@iamlisakirk @stkirsch That could be possible.

[Grace Talbert @talbertgrace]

@iamlisakirk @stkirsch It’s possible to have low b12 and folate without having an mthfr gene variant.

[Grace Talbert @talbertgrace]

@iamlisakirk @stkirsch “Results suggest a potential association between inherited MTHFR gene mutation and severe form of COVID-19, thromboembolic events, and mortality.” Nothing definitive.

[Grace Talbert @talbertgrace]

@iamlisakirk @stkirsch Neither of those 4 papers had any mention of MTHFR. I don’t see any evidence backing your claim that “Covid outcomes were most severe in patients with MTHFR mutation.”

[Grace Talbert @talbertgrace]

@iamlisakirk @stkirsch The paper you linked said there wasn’t enough data to make any firm conclusions…. My daughter has rare mthfr mutations; her homocysteine is 70+. Her symptoms were so minor when she had Covid. She only had a slight runny nose.

[Grace Talbert @talbertgrace]

@JPSinger22 @SinclairArt @IamSean90 Early treatment is life changing. Untreated severe MTHFR can be life threatening.

[Grace Talbert @talbertgrace]

@JPSinger22 @SinclairArt @IamSean90 In some states, it is a part of the newborn screening.

[Grace Talbert @talbertgrace]

@cantab_biker @acweyand I can see molecular testing to confirm a diagnosis. For my daughter, homocysteine and methionine was checked first, and then a genetic test was used to confirm her homocystinuria due to severe mthfr deficiency diagnosis.

[Grace Talbert @talbertgrace]

@cantab_biker @acweyand Another way to rule out classical HCU is to check methionine. Classical HCU has high homocysteine and high methionine. Cobalamin and severe MTHFR type HCU both have high homocysteine and LOW methionine.

[Grace Talbert @talbertgrace]

@HemoGirlsRock @acweyand What do you consider as high?

[HCU Network America @HCUAmerica]

It's Rare Disease Week 2024 - let's shine a 🔦 on severe MTHFR!

#RareDiseaseWeek2024 #RareDiseaseWeek #RareDiseaseDay2024 #RareDisease #homocystinuria #HCU #severeMTHFR #metabolicdisorders #HopeConnectsUs