About TMEM199-CDG: A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases (read more HERE).
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 Iron?
Iron is one of the many minerals needed by our body. It is important for the normal function of the immune system, the normal transport of oxygen in the blood, cognitive function and cell multiplication.
How can it help people living with CCDC115-CDG and TMEM199-CDG?
Defects in the CCDC115 and TMEM199 genes cause the malfunction of a complex formed by several proteins. This complex is responsible for pumping ions (in this case, hydrogen ions) that make the interior of lysosomes very acidic. In order to function, both CCDC115 and TMEM199 proteins need iron. Iron supplementation has shown positive results in a cellular model of CCDC115-CDG. TMEM199-CDG patients present with mild liver dysfunction and as for CCDC115-CDG, iron supplementation should also be investigated on cells from patients to know if it could be a therapeutic option.
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
