Liver transplantation for inborn errors of metabolism

Liver transplantation is an effective and widely accepted therapy for children with end-stage liver disease. The indications for liver transplantation in children can be classified into the following indications: 1) primary liver disease that is expected to progress to hepatic failure; 2) nonprogressive liver disease with morbidity that outweighs the risk of transplantation; 3) primary therapy for liver-based metabolic disease; 4) secondary liver disease, such as occurs in patients with cystic fibrosis; 5) primary hepatic malignacy. To date, primary therapy for liver-based metabolic disease has constituted the indication for about 3% of pediatric liver transplants performed. However, this indication is a more frequent indication and represents a frontier of application of the procedure. The appropriate use of liver transplantation to treat inborn errors of metabolism is the focus of this discussion. The principle goals of therapy when liver transplantation is applied for the treatment of inborn errors of metabolism are: 1) to correct the metabolic error; 2) to eliminate the hepatic consequences of the metabolic error; 3) to eliminate the peripheral consequences of the metabolic error; 4) to improve the quality of life and 5) to reduce the cost of care. With proper selection of patients, all of these goals can be accomplished.