Fucose

What is fucose? 

Fucose is one of the many sugars that play an essential role in the glycosylation of proteins. 

How can fucose supplementation help people living with SLC35C1-CDG?  

SLC35C1-CDG patients are not able to effectively transport fucose to the cell compartment (known as the Golgi apparatus -Golgi apparatus is a cell compartment responsible for transporting, modifying, and packaging proteins and  fats (lipids)-, where it is needed. You can learn more about the role of the  SLC35A1 protein in transporting the  fucose sugar inside the Golgi apparatus at CDG Therapies: From Bench to Bedside. Fucose supplementation in cells of individuals living with CDG and in animal models resulted in biochemical and clinical improvement. 

However, in patients the efficacy and effects of fucose supplementation have been more inconsistent. In some SLC35C1-CDG patients, fucose supplementation improved immune-related manifestations. Still, in other patients, fucose supplementation was only partly effective  and in others it led to no improvement. This means that fucose supplementation is not a “one size fits all” treatment for SLC35C1-CDG patients and each case should be evaluated independently. 

The company Avalo Therapeutics (former Cerecor) is developing an ultra-pure, oral, crystalline formulation of L-fucose that serves as a substrate replacement therapy (CERC-803). Avalo released a corporate presentation where you can learn more about their clinical developments here.

Watch the video from the 2020 CDG Conference provided by CDG CARE to better understand how this sugar may help people living with CDG.

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

• CDG Therapies: From Bench to Bedside
• CDG and immune response: from bedside to bench and back
• Treatment Options in Congenital Disorders of Glycosylation

How can fucose supplementation help people living with FUT8-CDG? 

Defects in the  FUT8 gene cause the malfunction of a protein that is responsible for adding fucose to the sugar trees inside our cells. 

See below the clinical phenotypes of human diseases related to fucose metabolism.

Fucose supplementation was tested in two siblings living with FUT8-CDG. A moderate clinical improvement was observed.However, as only two patients were tested and some symptoms may stabilize over time, more studies are needed to make sure fucose supplementation is a viable therapeutic option for individuals living with FUT8-CDG.  Read more at L-Fucose treatment for FUT8-CDG and Expanding the molecular and clinical phenotypes of FUT8-CDG. Although, publications in CDG are constantly growing. Thus, if you need accurate information, please contact us at https://worldcdg.org/contact

How can fucose supplementation help people living with GFUS-CDG?

The GFUS gene has the information to make a protein involved in the last step of the production of fucose inside our cells. Fucose is one of the sugars needed for glycosylation. Supplementation with fucose in patients’ cells showed good biochemical results. Furthermore, oral supplementation was tested in one individual living with CDG that showed improvements in cognitive skills and in growth. 

Read more at A spoonful of L-fucose - an efficient therapy for GFUS-CDG, a new glycosylation disorder 

Although, publications in CDG are constantly growing. Thus, if you need accurate information, please contact us at https://worldcdg.org/contact