u/EveTre

I hope this is the right place to post this.

We have been on a journey for what started as seeking a diagnosis for my daughter. It slowly turned to realizing it spans across multiple maternal generations.

High on our list was a mitochondrial disease type of issue. I have a maternal nephew that passed from Leigh’s Syndrome so their focus has been there for the last few months.

My WES and WGS both show that I am a carrier for chr14:32319298 T>C. The issue is, my daughter is not and we share a very similar phenotype.

With that being said, it’s still something I’d like to explore since my sister, mother and I all have adult onset decline. I’m reading that it’s possible to have adult onset symptoms with certain mutations.

Has anyone been diagnosed after only being a carrier and not fully homozygous for something considered an autosomal recessive disease?

I hope this is the right place to post this.

We have been on a journey for what started as seeking a diagnosis for my daughter. It slowly turned to realizing it spans across multiple maternal generations.

High on our list was a mitochondrial disease type of issue. I have a maternal nephew that passed from Leigh’s Syndrome so their focus has been there for the last few months.

My WES and WGS both show that I am a carrier for chr14:32319298 T>C. The issue is, my daughter is not and we share a very similar phenotype.

With that being said, it’s still something I’d like to explore since my sister, mother and I all have adult onset decline. I’m reading that it’s possible to have adult onset symptoms with certain mutations.

Has anyone been diagnosed after only being a carrier and not fully homozygous for something considered an autosomal recessive disease?

I’ve read about the cofactors and such. I had a functional B12 deficiency. My B12 has always been normal, but the MMA was elevated for over two years.

My provider finally found a B12 I can tolerate and in one month it was corrected. My mma is back in range.

However, my chronically low ferritin and iron are now high. Is this connected?

FWIW, I’m waiting on genetics for mitochondrial disease so it may be something else entirely. The timing is just suspicious.

Has anyone else had this happen?

I’ve apparently had a functional deficiency for two years without knowing about it. My MMA was high in 2024 and again a few months ago, normal b12. They wanted to start injections, but I’ve always been incredibly sensitive to b12 so we are waiting on my specialist appt.

In the meantime, my provider suggested a different type of b12 to supplement. I started it at 1,000mcg and the next day I began getting electric type shocks up my lower right leg. This is interesting to me because I have nerve damage and it started with electric shocks. I took my second dose today and same thing, electric shock sensation up my right calf.

Is it possible to get wake-up symptoms after only two doses? The doses were taken two days apart.

Hi all,

I just picked up the 24 hour urine test. Is there anything I shouldn’t eat/use during that window?

The lab said just nothing with copper.

Before anyone asks, I already did the bloodwork. I’ve had unexplained high liver enzymes off and on since 2007 so they want to rule this out first.