Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1

Background: Hereditary tyrosinaemia type 1 is a rare inherited metabolic condition, which leads to a fatal multisystemic disease in childhood. Since 1992, nitisinone – a compound developed from work on triketone herbicides – has become an effective pharmacological treatment by inhibiting the enzyme 4-hydroxyphenylpyruvate dioxygenase. Objectives: This review examines recent pharmacological and clinical literature on nitisinone, and assesses its impact as a pharmacological treatment for hereditary tyrosinaemia type 1. Methods: English language literature from MedLine and EmBase for nitisinone was searched from 1990 to 2008 for all papers relevant to the use of nitisinone in hereditary tyrosinaemia type 1. Conclusions: Nitisinone can prevent the development of liver disease and significantly reduce the risk of developing hepatocellular carcinoma; however, vigorous surveillance for the development of HCC needs to be continued lifelong.