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
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
Last edited: