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CBLC in 23 & me?

Messages
48
Location
Ohio
I am relatively new to all of this, and a lot of the information goes over my head. I was wondering if there is a way to tell if I have CBLC disease from any of my SNPS on 23 & me. I had my serum homocysteine checked, and it was WNL, but I am experiencing mood swings, ptosis, retina issues, occasional joint pain and migrating pain, random tingling/buzzing in extremities, insomnia, temperature sensitivity...etc. I started methylation a while back, but it did not go well, and I plan on trying again hopefully soon. Honestly, most of my issues started AFTER starting methylation, aside from the retina/ptosis. Is it possible that starting methylation triggered all of these symptoms?
 
Messages
48
Location
Ohio
Also, my 4 year old seems to be suffering from similar issues, but it's hard to know for sure because he is so young, and has a hard time explaining things and I don't want to suggest things to him becuase then I wouldn't know if he was saying it becuase I'm saying it or because he's truly experiencing it.
 

alicec

Senior Member
Messages
1,572
Location
Australia
I was wondering if there is a way to tell if I have CBLC disease from any of my SNPS on 23 & me.

CblC disease is very rare - around 400 known cases - and very serious, often resulting in death.

Here is a paper which characterises mutations resulting in the disease. From the text you can work out the rs numbers for at least some of the descriptive names of the variants.

Here is the OMIM entry which lists rs numbers for the most significant variants.

I don't know if 23andme tests for any of these variants but you can browse your raw data for the rs numbers.