Read A family’s global research journey searching for a treatment for PIGA-CDG, from Rare revolution Magazine.
What is GlcNAc-PI?
N-acetylglucosamine-phosphatidylinositol (GlcNAc-PI) is a component of GPI-membrane anchors. These anchors help proteins sit on top of the cell membrane. GPI anchored proteins play many important roles in your body. They are responsible for ensuring that your cells do their job.
How can it help people living with PIGA-CDG?
The phosphatidylinositol glycan class A (shortened to PIGA protein) is part of a complex made of 7 proteins that produces GlcNAc-PI. Read more here or here).
When one of the proteins of the complex, in this case the PIGA protein, is defective, there is a lack of GlcNAc-PI, hence by giving the GlcNAc-PI that is missing, the normal glycosylation could be restored. To better understand how GlcNAc-PI supplementation can help people living with PIGA-CDG watch this video.
Publications in CDG are constantly growing. We have selected articles of special interest for you, see below. Not all are open access, thus if you wish to access the full information, please contact us at https://worldcdg.org/contact
