Successful liver transplantation and long-term follow-up in a patient with MPI-CDG

Mirian C.H. Janssen, Ruben H. De Kleine, Arie P. Van Den Berg, Yvonne Heijdra, Monique Van Scherpenzeel, Dirk J. Lefeber, Eva Morava

Research output: Contribution to journalArticle

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)e279-e283
JournalPediatrics
Volume134
Issue number1
DOIs
StatePublished - Jul 2014

Keywords

  • Congenital disorder of glycosylation
  • Liver transplantation
  • MPI-CDG

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Janssen, M. C. H., De Kleine, R. H., Van Den Berg, A. P., Heijdra, Y., Van Scherpenzeel, M., Lefeber, D. J., & Morava, E. (2014). Successful liver transplantation and long-term follow-up in a patient with MPI-CDG. Pediatrics, 134(1), e279-e283. https://doi.org/10.1542/peds.2013-2732