Re: re: Anne - CDG(transferrin)

[Guest guest]

Anne,

My scientist that diagnosed us is at UCSD. I am sure he would love to talk with your guy.

The reason we were told that the CDG is primary is the fact that the glycosylation sugar chains are formed in hte endoplasmic reticulum from there they leave the ER and travel on to other cells to deliver the sugar on the sugar chain and pick up others. It is from the ER that they travel to the mitochondrial outer membrane. So I dont understand how it could be the other way around. Who knows though I suuppose. It is a cascade of effects usually with most diseases.

My kids all three have the classic clotting disorder of CDG, they have a protein C deficiency. they are the opposite of yours, they make too many blood clots and as a result have strokes. they are on coumadin and asparin.

My kids are also immunedeficient and receive IVIG every two to three weeks. I didnt know it also helps the vsculitis.. one has CNS vasculitis. we also have a autoimmune component to our disease and all the kids test positive for a sweat chloride test for CF and have positive ANA's and anti histone. I have Lupus and mito. Our mito defect is a complex II and III defect with one girl with a secondary FOD.

they believe these are all related to the glycosylation defect.

however another difference between you and us is that if your transferrin is high that means that you have a N glycosylation defect, ours is a O linked glycosylation defect. same disorder just a different protein chain..same rare disease//like we needed more right????ugh

If you E mail me off list I can give you the E mail of my researcher and perhaps he will write you back if you catch his attention with a title of "my kids may have a Mito and CDG help ;O"