Janssen et al. recently reported the first successful liver transplantation in a Congenital Disorders of Glycosylation (CDG), and specifically in phosphomannose isomerase deficiency (MPI-CDG). MPI-CDG has been considered a treatable disorder usually presenting with hepato-intestinal pathology. Treatment with mannose can improve the life-threatening protein-losing enteropathy and coagulation disorder but patients ultimately develop progressive liver insufficiency.
Janssen et al. report on a patient with MPI-CDG who developed progressive liver fibrosis, despite oral mannose therapy. The proband developed hemolytic jaundice associated to mannose supplementation and secondary pulmonary involvement necessitating liver transplant. Physical exercise tolerance, pulmonary functions, and metabolic parameters were fully restored after transplantation and the patient is reportedly still doing well 2 years after transplantation.
Successful liver transplantation and long-term follow-up in a patient with MPI-CDG. Janssen et al. Pediatrics. 2014 Jul;134(1):e279-83. PMID: 24982104
Posted by Yannis Trakadis, MD