What is Ribitol?
Our body cells have an outer membrane made of fats, proteins and sugars.
Ribitol is a sugar necessary for the function of specific structures that are located in the cell membrane. These structures are mainly found in muscles, eyes and brain.
How can ribitol supplementation help people living with ISPD-CDG?
Oral administration of ribitol showed benefits in cardiac and skeletal muscle of a mouse model.
Treatment of ISPD-CDG patient’s cells with ribitol improved glycosylation and restored the normal shape of the cells. Further studies are needed to assess the effect of this sugar in patients.
How can ribitol supplementation help people living with FKRP-CDG?
The Fukutin-related protein (FKRP) is responsible for modifying the sugar ribitol so it can be added to certain sugar trees (glycans) that decorate a protein called alpha (α)-dystroglycan. This protein helps stabilize and protect muscle fibers and also helps direct the movement (migration) of nerve cells (neurons) during early development.
Ribitol supplementation was tested in a FKRP-CDG mouse model, improving skeletal and respiratory functions as well as reducing cardiac fibrosis (abnormal thickening of the heart valves).
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
