End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: No contra-indication for liver transplantation

Jan Peter Rake*, Francjan J. Van Spronsen, Gepke Visser, Wim Ruitenbeek, Joachim J. Schweizer, Charles M.A. Bijleveld, Paul M.J.G. Peeters, Koert P. De Jong, Maarten J.H. Slooff, Dirk Jan Reijngoud, Klary E. Niezen-Koning, G. Peter A. Smit

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

23 Citations (Scopus)

Abstract

The prerequisite for liver transplantation as a therapeutic option for inherited metabolic diseases should be that the enzyme defect, being responsible for the major clinical (hepatic and/or extra-hepatic) abnormalities, is localised in the liver. Furthermore, no adequate dietary or pharmacological treatment should be available or such treatment should have an unacceptable influence on the quality of life. We report an infant, who developed end-stage liver disease with persistent lactic acidaemia in his first months of life. Analysis of the mitochondrial respiratory chain in liver tissue revealed a combined partial complex I and IV deficiency. No extra-hepatic involvement could be demonstrated by careful screening for multiple organ involvement, including analysis of the mitochondrial respiratory chain in muscle tissue and cultured skin fibroblasts. The boy received a reduced size liver graft at the age of 8 months. He recovered successfully. Almost 5 years after transplantation he is in good clinical condition. No clinical or biochemical signs of any organ dysfunction have been demonstrated. The considerations on which basis it was decided that there was no contra-indication to perform liver transplantation in this patient are discussed. Conclusion: The possibility of a mitochondrial respiratory chain deficiency should be considered in liver disease of unknown origin prior to liver transplantation. Liver transplantation is a therapeutic option in mitochondrial respiratory chain deficiency-based end-stage liver disease provided that extra-hepatic involvement is carefully excluded.

Original languageEnglish
Pages (from-to)523-526
Number of pages4
JournalEuropean Journal of Pediatrics
Volume159
Issue number7
DOIs
Publication statusPublished - 1 Jan 2000

Keywords

  • End-stage liver disease
  • Inborn errors of moetabolism
  • Liver transplantation
  • Mitochondrial respiratory chain deficiency

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