How can you help our CDG community? Is easy! Share among your social media and other channels the information we make available within this section and website. This raises awareness, accelerates diagnosis, and secures better care and management for our CDG children and adults!
What is mannose?
Mannose (Man) is an important sugar in your metabolism, especially in the glycosylation of certain proteins. Several CDG are associated with defects in mannose metabolism.
How can mannose help people living with ALG1-CDG?
The ALG1 gene provides information for making a protein responsible for adding a mannose to the sugar trees which are produced inside the Endoplasmic Reticulum. When the ALG1 gene and protein are not working properly, adding extra mannose to our cells is like giving them a (metabolic) push. It works as a compensation mechanism: ensuring that the slow working defective ALG1 protein always has mannose at their disposal forcing it to keep working at a slow, but sustained pace. Mannose supplementation restored the glycosylation process in patient cells. This is a good sign that suggests this supplementation could be beneficial to ALG1-CDG patients.
You can learn more about the supplementation strategy with mannose for MPI-CDG, ALG1-CDG and PMM2-CDG at CDG Therapies: From Bench to Bedside, available in open access here.
How can mannose help people living with MPI-CDG?
The MPI protein is responsible for making mannose from another sugar called Fructose. When MPI is not working, there is a defect in the production of mannose.
Mannose supplementation was first tried in an MPI-CDG patient in 1998 and it is currently the approved treatment for MPI-CDG. Patients usually show remarkable improvement in several clinical signs and symptoms. However, mannose supplementation is not effective at treating liver problems, so liver involvement still persists. Also, some patients had side effects from taking mannose such as diarrhea and stomach pain which can be managed by adjusting how much mannose you get.
An explanatory infographic is provided at the article Long term outcome of MPI-CDG patients on D-mannose therapy, and you can check it below:
