Liver transplantation in tyrosinaemia type I

Over the last 10 years the need for liver transplantation in tyrosinaemia type I (TTI) (McKusick Catalogue No. 276700) has considerably changed. Whereas prior to 1992 the development of fulminant hepatic failure, progressive liver dysfunction or hepatocellular carcinoma almost inevitably led to liver transplantation at a very early age of the patient, with the introduction of NTBC [2-(2-nitro-4-trifluoromethyl-benzoyl)-1,3-cyclohexandion], the outcome of the disease has dramatically improved. Only 10% of all children with fulminant hepatic failure secondary to TTI require liver transplantation and very few children in whom NTBC treatment was commenced before the age of 2 years have required liver transplantation for the risk of hepatocellular carcinoma. Following liver transplantation regular surveillance of potentially progressive renal dysfunction needs to be emphasised. However, despite improvements following the introduction of NTBC, close monitoring of morphological changes of the liver and serial alpha-fetoprotein levels are essential to identify those patients at high risk.