PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report

We describe one of the first reported cases of liver transplantation in a child with PMM2-CDG and interim post-transplant outcomes. […] Liver transplantation may offer clinical benefit in PMM2-CDG with severe hepatic involvement, including resolution of ascites and improved quality of life, due to its potential to restore liver glycosylation function. However, this is only a partial correction as persistent extrahepatic manifestations underscore the need for further research into transplant outcomes and systemic disease progression in CDG.