Liver transplantation for inherited metabolic disease

Liver Transplantation is indicated for children with inherited metabolic disease because of a primary hepatic enzyme deficiency, which leads to liver failure and/or hepatic cancer, or severe extra hepatic disease. The selection and timing depends on the rate of progression of disease, the success of medical therapy and the extent of reversible extra hepatic disease. Transplant techniques include orthotopic, living related and auxiliary liver transplanta- tion or combined liver and kidney transplantation. Liver transplantation effectively treats structural metabolic hepatic disease with a phenonotypic and functional cure in alpha1 antitrypsin deficiency, Wilson's disease, PFIC and neonatal haemochromatosis. There is only a partial cure in Tyrosinaemia Type 1 as abnormal metabolites are still produced by the kidney, but a complete cure in primary oxalosis and urea cycle defects. Outcome for organic acidaemias remains poor due to technical and metabolic challenges.