TY - JOUR
T1 - End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency
T2 - No contra-indication for liver transplantation
AU - Rake, Jan Peter
AU - Van Spronsen, Francjan J.
AU - Visser, Gepke
AU - Ruitenbeek, Wim
AU - Schweizer, Joachim J.
AU - Bijleveld, Charles M.A.
AU - Peeters, Paul M.J.G.
AU - De Jong, Koert P.
AU - Slooff, Maarten J.H.
AU - Reijngoud, Dirk Jan
AU - Niezen-Koning, Klary E.
AU - Smit, G. Peter A.
PY - 2000/1/1
Y1 - 2000/1/1
N2 - 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.
AB - 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.
KW - End-stage liver disease
KW - Inborn errors of moetabolism
KW - Liver transplantation
KW - Mitochondrial respiratory chain deficiency
UR - http://www.scopus.com/inward/record.url?scp=0033918867&partnerID=8YFLogxK
U2 - 10.1007/s004310051324
DO - 10.1007/s004310051324
M3 - Article
C2 - 10923228
AN - SCOPUS:0033918867
SN - 0340-6199
VL - 159
SP - 523
EP - 526
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - 7
ER -