Hello,

My daughter is 3.5 years old and has a rare chromosomal mutation, resulting in turners syndrome and 16p.13.3 duplication syndrome. Recently I have found that there is hypermethylation of her PMM2 gene. I've done a lot of reading about CDG and it would explain a lot of the unanswered mysteries that we face with her growth and mobility, which were not addressed by her existing diagnosis.

I've asked her geneticist if the hypermethylation would result in CDG, I have not gotten a definitive answer yet. Would anyone on this forum have experience with this and be able to suggest whether hypermethylation of PMM2 would result in a mutated PM which would be considered CDG?

If so, any ideas on what to do from a nutrition standpoint to either influence or regulate methylation or support the process?

Any help or suggestions are so appreciated. hoping to do as much preventatively as possible.

Kind regrads