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

The prerequisite for liver transplantation as a therapeutic option for inhe rited metabolic diseases should be that the enzyme defect, being responsibl e for the major clinical (hepatic and/or extra-hepatic) abnormalities, is l ocalised 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-s tage liver disease with persistent lactic acidaemia in his first months of life. Analysis of the mitochondrial respiratory chain in liver tissue revea led a combined partial complex I and IV deficiency. No extra-hepatic involv ement could be demonstrated by careful screening for multiple organ involve ment, including analysis of the mitochondrial respiratory chain in muscle t issue and cultured skin fibroblasts. The boy received a reduced size liver graft at the age of 8 months. He recovered successfully. almost 5 years aft er transplantation he is in good clinical condition. No clinical or biochem ical signs of any organ dysfunction have been demonstrated. The considerati ons on which basis it was decided that there was no contra-indication to pe rform 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 tran splantation. Liver transplantation is a therapeutic option in mitochondrial respiratory chain deficiency-based end-stage liver disease provided that e xtra-hepatic involvement is carefully excluded.