title: Successful liver transplantation and long-term follow-up in a patient with MPI-CDG.
abstract: 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 coagulation disorder on oral mannose supplementation therapy. However, patients who have MPI-CDG develop progressive liver insufficiency during a later course of disease. A patient who had MPI-CDG developed progressive liver fibrosis, despite oral mannose supplementation and repeated fractionated heparin therapy. She showed mannose therapy-associated hemolytic jaundice. She developed severe dyspnea and exercise intolerance owing to pulmonary involvement, necessitating liver transplant. After transplantation her physical exercise tolerance, pulmonary functions, and metabolic parameters became fully restored. She is still doing well 2 years after transplantation now. In conclusion, we here report on the first successful liver transplantation in CDG.
authors: Departments of Pediatrics,Internal Medicine, mirian.janssen@radboudumc.nl.
authors: Mirian C H
authors: MC
authors: Janssen
authors: Departments of Hepatobiliary Surgery and Liver Transplantation, and.
authors: Ruben H
authors: RH
authors: de Kleine
authors: Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, Netherlands; and.
authors: Arie P
authors: AP
authors: van den Berg
authors: Pulmonary Diseases, and.
authors: Yvonne
authors: Y
authors: Heijdra
authors: Neurology, andLaboratory of Genetic, Endocrine, and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands;
authors: Monique
authors: M
authors: van Scherpenzeel
authors: Neurology, andLaboratory of Genetic, Endocrine, and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands;
authors: Dirk J
authors: DJ
authors: Lefeber
authors: Tulane Hayward Genetics Centre, New Orleans, Louisiana.
authors: Eva
authors: E
authors: Morava
mesh_terms: D000328:Adult; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D016031:Liver Transplantation; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency*; D012074:Remission Induction; D013997:Time Factors
chemical_list: D008359:Mannose-6-Phosphate Isomerase
keywords: MPI-CDG; congenital disorder of glycosylation; liver transplantation