Would the 23andme be able to detect Glycogen Storage Disease?

[Peyt]

Hi,
Does anyone know if the genes that are responsible for Glycogen Storage Disease are a part of 23andme test?
If not, are there genetic tests available for this disease?

 

[alicec]

There are a number of glycogen storage diseases - around 10 depending on how they are classified. The differences arise from problems with different enzymes in the process of glycogen production from glucose; each type affects a different enzyme.

Here and here are a couple of articles which describe the different types, their frequency in the population and the types of tests done for detection.

All are rare to very rare serious inborn errors of metabolism which manifest in very early childhood. If you are thinking this could be your problem, it is extremely unlikely you would have reached adulthood without serious manifestations of the disorder.

Genetic testing is confirmatory after a series of functional tests. There is no one test - each of the potentially defective enzymes must be tested for.

23andme may test for some of these - I don't really know. You would need to search for each gene.

Here is the OMIM entry for the disorders. You would need to look at each type to see what genetic variants are associated with the disorder.

 

[Peyt]

There are a number of glycogen storage diseases - around 10 depending on how they are classified. The differences arise from problems with different enzymes in the process of glycogen production from glucose; each type affects a different enzyme.

Here and here are a couple of articles which describe the different types, their frequency in the population and the types of tests done for detection.

All are rare to very rare serious inborn errors of metabolism which manifest in very early childhood. If you are thinking this could be your problem, it is extremely unlikely you would have reached adulthood without serious manifestations of the disorder.

Genetic testing is confirmatory after a series of functional tests. There is no one test - each of the potentially defective enzymes must be tested for.

23andme may test for some of these - I don't really know. You would need to search for each gene.

Here is the OMIM entry for the disorders. You would need to look at each type to see what genetic variants are associated with the disorder.

Thanks so much for your reply,
The one that I suspect is actually the first one which is Type I simply because I suspect my lactic acid is very high.
This acidosis makes my body heavy and painful and so in order to reduce it I use B1.. Which works but I never
knew why I would have acidosis in the first place...

Anyways, I just bought a box of organic corn starch which apparently is very helpful for this problem and also
some Beta-Alanine which helps with hypoglycemia ... I don't want to judge too quickly but I have only taken 1 capsule of the Beta-Alanine and 1 tea spoon of the corn starch(I took them about 5 hours ago) and both my headache that I had this morning and my lightheadedness is gone, not to mention I don't feel as irritated as I usually do... I also do not feel hungry like I usually do every 3-4 hours and I could barley eat a salad 2 hours after my usual lunch time.. I know its too early to tell, so I am gonna continue this for a week and see what happens.

I would be interested to know what all tests are to be done to diagnose this problem, either genetic or none.

 

[wastwater]

I've always been weary of 23andme as I don't understand it,I wonder if whole genome scans would reveal more or not,but these are expensive
Maybe try get on a genome programme

 

[Peyt]

Hi
I just wanted to give an update. I have been using the cornstarch every 4-6 hours since the last post and I have not even had 1 episode of headaches anymore.... I did stop the Beta-Alanine though simply because it gave me a rash and was upsetting my stomach. B1 achieves the same thing for me without any side effects so I am using that instead of Beta alanine... I have had a very tough time finding a doctor that specializes in GSD for adults. Apparently, most of the doctors who specialize in GSD are focused on pediatrics , and the adult version of GSD (which is a lot less symptomatic and shows up as a person gets older) is over looked..... I have scheduled an appointment with a Doctor who is a professor at a UC university here in California whose specialty is Metabolic. I am hoping he can order the proper tests to diagnose the correct form of Hypoglycimia that I have...

 

[alicec]

I have scheduled an appointment with a Doctor who is a professor at a UC university here in California whose specialty is Metabolic. I am hoping he can order the proper tests to diagnose the correct form of Hypoglycimia that I have..

Do let us know how this goes.

 

[TrixieStix]

There are a number of glycogen storage diseases - around 10 depending on how they are classified. The differences arise from problems with different enzymes in the process of glycogen production from glucose; each type affects a different enzyme.

Here and here are a couple of articles which describe the different types, their frequency in the population and the types of tests done for detection.

All are rare to very rare serious inborn errors of metabolism which manifest in very early childhood. If you are thinking this could be your problem, it is extremely unlikely you would have reached adulthood without serious manifestations of the disorder.

Genetic testing is confirmatory after a series of functional tests. There is no one test - each of the potentially defective enzymes must be tested for.

23andme may test for some of these - I don't really know. You would need to search for each gene.

Here is the OMIM entry for the disorders. You would need to look at each type to see what genetic variants are associated with the disorder.

I have been reading up on Glycogen Storage Diseases and some of them can indeed only become symptomatic for the first time in adulthood (late-onset).

I saw a Genetic medicine specialist this year and he wanted run metabolomic testing on me for "Inborn Errors of Metabolism". Unfortunately insurance won't cover such testing and it costs $1,000 and would require a spinal tap. Still considering it though.


This has great information about adult-onset Inborn Errors of Metabolism...

https://www.google.com/url?q=http://www.springer.com/cda/content/document/cda_downloaddocument/9783662497692-c1.pdf?SGWID=0-0-45-1591277-p179912541&sa=U&ved=0ahUKEwiSgsW66IvWAhWG5CYKHRLUDGkQFggLMAA&usg=AFQjCNG9NFem_M7jk7PH95F4jDCZpc_CrQ

 

[Gondwanaland]

I have been reading up on Glycogen Storage Diseases and some of them can indeed only become symptomatic for the first time in adulthood (late-onset).

I am trying to find out if being a carrier of Glycogen Storage Disease Type 1a allele Glycogen Storage Disease
+/- i3002486(C;T) plays any role in my intolerance to LCHF diet.