Medical progress and pitfalls of the treatment of inborn errors involving the liver

In the early years because of the high risk of mortali- ty and morbidity, liver transplantation was only used for those that were terminally ill. As the outlook for liver transplantation in childhood has improved so the indica- tions for transplantation for metabolic disorders in child- hood have expanded (1). Liver transplantation is used to treat inborn errors for two major indications; firstly because of irreversible liver disease, usually cirrhosis, and secondly for enzyme replacement. The management may be made more com- plicated by the involvement of other organs by the meta- bolic disease. The indications for transplantation for isolated liver failure are the same as those for any other cause. The most frequent disorders are progressive familial intra- hepatic cholestasis (PFIC), Wilson's disease, a1- anti- trypsin deficiency and tyrosinaemia type 1. In glycogen storage disease (GSD) IV, cystic fibrosis, respiratory chain disorders, and cholesterol ester storage disease liver may be also diseased but other organs are often involved (heart, lung, etc) and may complicate trans- plantation.