Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: three-year follow-up in a patient with phosphomannomutase-2 …
S Tahata, J Weckwerth, A Ligezka, M He… - Molecular genetics and …, 2023 - Elsevier
Phosphomannomutase-2-congenital disorder of glycosylation (PMM2-CDG) is the most
common CDG and presents with highly variable features ranging from isolated neurologic
involvement to severe multi-organ dysfunction. Liver abnormalities occur in in almost all
patients and frequently include hepatomegaly and elevated aminotransferases, although
only a minority of patients develop progressive hepatic fibrosis and liver failure. No curative
therapies are currently available for PMM2-CDG, although investigation into several novel …
common CDG and presents with highly variable features ranging from isolated neurologic
involvement to severe multi-organ dysfunction. Liver abnormalities occur in in almost all
patients and frequently include hepatomegaly and elevated aminotransferases, although
only a minority of patients develop progressive hepatic fibrosis and liver failure. No curative
therapies are currently available for PMM2-CDG, although investigation into several novel …
