Anyone tried Genetic Metabolism doctor/testing?: Abnormal proprionycarnitin MMA and C3 despite their B12 and homocystein being in range.

rachel76

Established Member (Voting Rights)
Apparently in tired babies and kids they do a test called C3 these days. This did not exist when I was a kid.
I am 50 years old, got CFS at age 15 after Mono.

I accidently get the C3 done and it is slightly abnormal.
Doctors shrug it off.
So I decided to go to a metabolic genetic doctor. I got the following mild abnormalities. I will put them here. My homocystein and B12 levels are always fine.1792897294135.webp
Again I have been told it is nothing.
My exercise intolerance is severe. there are 2 published papers on people with CFS who were misdiagnosed and really had mitochondrial or metabolic diseases.
AI tells me that it deserves more investigation and shows a possible mild B vitamin conversion problem.
I just thought to ask here if anyone has had blood test results like this ?
Has anyone tried a metabolic genetic field?


1792897822980.webp
 
This recent paper from the Edinburgh group showed
Fine-mapping at one replicated locus resolved a credible set colocalising with reduced CLYBL expression in putamen, in linkage disequilibrium with the replicated variant.
However, the CLYBL Arg259 stop-gain variant was not associated with ME/CFS risk.

CLYBL is involved in B12 metabolism as discussed in the paper.
 
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