Successful liver transplantation and long-term follow-up in a patient with MPI-CDG
MCH Janssen, RH De Kleine, AP Van Den Berg… - …, 2014 - publications.aap.org
Hepatopathy is the most common feature in the Congenital Disorders of Glycosylation
(CDG). More than 70 subtypes have been identified in this growing group of inborn errors.
Most defects present as multisystem disease, whereas phosphomannose isomerase
deficiency (MPI-CDG) presents with exclusive hepato-intestinal phenotype. MPI-CDG has
been considered as one of the very few treatable disorders of glycosylation; several patients
showed significant improvement of their life-threatening protein-losing enteropathy and …
(CDG). More than 70 subtypes have been identified in this growing group of inborn errors.
Most defects present as multisystem disease, whereas phosphomannose isomerase
deficiency (MPI-CDG) presents with exclusive hepato-intestinal phenotype. MPI-CDG has
been considered as one of the very few treatable disorders of glycosylation; several patients
showed significant improvement of their life-threatening protein-losing enteropathy and …
