caa a22 4500 475784723 CHVBK 20180406123654.0 cr unu---uuuuu 170329e20000601xx s 000 0 eng 10.1007/s004310051324 doi (NATIONALLICENCE)springer-10.1007/s004310051324 End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation [Elektronische Daten] [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] 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. Springer-Verlag Berlin Heidelberg, 2000 Key words End-stage liver disease nationallicence Liver transplantation nationallicence Inborn errors of metabolism nationallicence Mitochondrial respiratory chain deficiency nationallicence Rake Jan Peter Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut van Spronsen Francjan J. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut Visser Gepke Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut Ruitenbeek Wim Department of Paediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands, NL aut Schweizer Joachim J. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut Bijleveld Charles M. A. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut Peeters Paul M. J. G. Liver Transplant Group, University Hospital Groningen, Groningen, The Netherlands, NL aut de Jong Koert P. Liver Transplant Group, University Hospital Groningen, Groningen, The Netherlands, NL aut Slooff Maarten J. H. Liver Transplant Group, University Hospital Groningen, Groningen, The Netherlands, NL aut Reijngoud Dirk-Jan Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut Niezen-Koning Klary E. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut Smit G. Peter A. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut https://doi.org/10.1007/s004310051324 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310051324 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rake Jan Peter Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- van Spronsen Francjan J. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Visser Gepke Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Ruitenbeek Wim Department of Paediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands, NL aut NATIONALLICENCE 700 1- Schweizer Joachim J. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Bijleveld Charles M. A. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Peeters Paul M. J. G. Liver Transplant Group, University Hospital Groningen, Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- de Jong Koert P. Liver Transplant Group, University Hospital Groningen, Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Slooff Maarten J. H. Liver Transplant Group, University Hospital Groningen, Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Reijngoud Dirk-Jan Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Niezen-Koning Klary E. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Smit G. Peter A. Beatrix Children's Hospital, University Hospital Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands e-mail: j.p.rake@bkk.azg.nl Tel.: +31-50-3616161; Fax: +31-50-3614235, NL aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer