Do I have mutations on the ETFDH genes?

[Cheesus]

I've recently found some interesting information about the relative levels of various types of carnitine in my blood, and the pattern points to possible adult-onset glutaric acidemia type 2. This is particularly interesting as one of the primary symptoms of adult-onset glutaric acidemia type 2 is impaired energy metabolism. According to the journal article I am reading, around a quarter of people studied presented with exercise intolerance.

I have found some research which states that most patients with adult-onset glutaric acidimia type 2 have defects on the gene ETFDH. This is something that 23andME tests for and I have pulled up my results. However I do not know the first thing about genes and I have no idea what I am looking at.

Can anyone tell me if I have mutations on these genes? Apologies for being so pathetically under-informed!

ETFDH 159601635 i6038220
My genotype: DD

ETFDH 159601676 rs11559290 C or T
My genotype: CT

ETFDH 159603421 i5007876 A or G
My genotype: GG

ETFDH 159603551 i5007878 A or T
My genotype: TT

ETFDH 159608162 rs12644851 A or G
My genotype: AG

ETFDH 159616797 i6055260 C or T
My genotype: TT

ETFDH 159619426 rs12640862 C or T
My genotype: CC

ETFDH 159620035 rs7679753 A or C
My genotype: AA

 

[Valentijn]

You can look them up on https://www.ncbi.nlm.nih.gov/projects/SNP/ and read any linked research from the little cyan box in the gene view. Sometimes it's labeled as pathogenic at the top of the page, if its status is known.

 

[Cheesus]

Thank you for the information, @Valentijn. Even that still leaves me a bit mystified. I have never ventured into gene research. Am I correct that if a gene is either C or T, then CC would be normal, CT would heterozygous and TT would be homozygous?

 

[Cheesus]

On further inspection, I don't think these ETFDH genes reported by 23andMe are those which can be responsible for glutaric acidemia. Or at least none of the RS numbers above match those here: https://www.ncbi.nlm.nih.gov/clinvar/?term=ETFDH glutaric acidemia

 

[Valentijn]

Am I correct that if a gene is either C or T, then CC would be normal, CT would heterozygous and TT would be homozygous?

CC and TT are both homozygous. Usually both versions are normal. To determine if an allele (C or T) or a genotype (CC, CT, or TT) is problematic, it's necessary to read the research or a summary of it.

On further inspection, I don't think these ETFDH genes reported by 23andMe are those which can be responsible for glutaric acidemia. Or at least none of the RS numbers above match those here:

The SNPs starting with "i" have been labeled that way by 23andMe. Such SNPs usually have an rs number as well, but it's a bit of work to figure it out. The data I have for ME patients and controls from the V3 and V4 chips indicates that you have common versions for all of them, except the first one which isn't listed. But by navigating to it from the nearest SNP listed by 23andMe, it's properly labeled as rs796051964, and a deletion (or rather, the lack of an insertion) is normal there.

 

[Cheesus]

Thank you very much for looking into that for me, @Valentijn. I wouldn't have gotten to the answer without your help.