Navigating Your PMM2-CDG Journey
PMM2-CDG, or phosphomannomutase 2-congenital disorder of glycosylation, is a rare disease caused by your body not producing enough of an important sugar called M1P, or mannose-1-phosphate.
This sugar is needed for glycosylation (say: glai-kah-suh-lay-shun), a process in which sugar chains are added to proteins to help them work correctly throughout the body.
Every day matters when it comes to you or your child’s care and your peace of mind. A better understanding of PMM2-CDG can improve management of symptoms and interactions with your clinical team.
Have You or Your Child
Been Diagnosed?
Register with the CDG CARE Family Resource Network to connect with the CDG community.
Still Looking
for Answers?
Genetic testing is the gold standard to confirm diagnosis of PMM2-CDG and inform your treatment plan.
Living With PMM2-CDG
While PMM2-CDG is rare, you are not alone.
PMM2-CDG is one of more than 160 different CDGs. Recent data also suggest that there are around 14,000 patients with PMM2-CDG in North America and Europe.
“Every single day I look at Toby in complete admiration. He has faced a lot in his short 18 months but continues to be a happy little boy. There are absolutely tough days where it feels incredibly overwhelming, but we just feel so lucky to have him as part of our family.”
– Caregiver of Toby, a patient living with PMM2-CDG
Discover Helpful Resources
It can be tough to find the right information for rare diseases like PMM2-CDG. Discover patient advocacy and support organizations, as well as clinical trials.