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Our community is in a relentless pursuit of therapies!
Nutritional replacement therapies for CDG
There are very few approved therapeutic options for CDG, but recently there has been an increase in research and awareness that have boosted the discovery and investigation of several therapeutic options, shedding new light and hope into therapeutic avenues for CDG.
Please note that the majority of the therapeutic strategies presented below (except for mannose supplementation for MPI-CDG) are currently under investigation and are not yet fully approved.
Did you know that...
- In many CDG, symptoms appear because a specific sugar is missing? Take the example of GNE myopathy (GNEM or GNE-CDG). This CDG is characterized by a progressive muscle weakness due to defects in the GNE gene that is crucial for the production of a diverse family of sugars - the sialic acids. Thus, you may find that this condition is referred to as neuromuscular or CDG.
If you want to find out more about GNE-CDG visit this page (https://sites.fct.unl.pt/prodgne/pages/gne-myopathy).
- In other CDG, minerals (such as zinc (Zn) or magnesium (Mg)) that are necessary for the proper function of the proteins involved in making and/or adding the sugars to the proteins and lipids (fats) are lacking. For example, in MAGT1-CDG, there is a lack of magnesium because the protein that transports this mineral inside your cells, the MAGT1, is not working properly.
How can Nutritional replacement therapies help CDG patients?
Nutritional replacement therapies are also called substrate replacement therapies. In other words, they provide a substrate which is missing, normally because the protein that produces it is defective. The substrate is like a fuel that allows other protein(s) to do their job. By using nutritional therapies, we can overcome the gene/protein defect by giving to the person living with CDG, the compound (fuel) he/she is missing to ensure correct glycosylation.
Depending on the CDG, this compound might be a sugar (e.g. GlcNAc-PI, mannose, fucose or sialic acid), elements that allow the correct transport of sugars into the cells (e.g. minerals, as iron and magnesium) or other compounds that can help improve the symptoms of individual living with CDG (e.g. vitamin B6 or sodium butyrate).
Which specific Nutritional replacement therapies can help CDG patients, are found in this section?
Keep in mind, you are not alone. Though Congenital Disorders of Glycosylation (CDG) are categorized as “rare” there is an amazing community at your fingertips working day and night to improve the lives of many people living with CDG and their family members. We want you to know everything that is available about therapies in lay language, but we suggest you enter into it at your own pace and comfort level.
Vanessa Ferreira and Sandra Brasil (CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG). Ines Santos, Tiago Martins, Madalena Raposo from Sci and Volunteer Program Nova School of Science and Technology 2021. Ana Sofia Rodrigues (content management, CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).
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