title: Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1.
abstract: 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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Birmingham Children's Hospital, The Liver Unit, Steelhouse Lane, Birmingham, B4 6NH, UK.
authors.forename: Saikat
authors.initials: S
authors.lastname: Santra
authors.forename: Ulrich
authors.initials: U
authors.lastname: Baumann
mesh_terms: D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000037:antagonists & inhibitors; D006528:Carcinoma, Hepatocellular / Q000209:etiology / Q000517:prevention & control; D002648:Child; D003512:Cyclohexanones / Q000009:adverse effects / Q000494:pharmacology / Q000627:therapeutic use*; D004791:Enzyme Inhibitors / Q000009:adverse effects / Q000494:pharmacology / Q000627:therapeutic use*; D006801:Humans; D008107:Liver Diseases / Q000209:etiology / Q000517:prevention & control; D008113:Liver Neoplasms / Q000209:etiology / Q000517:prevention & control; D008991:Monitoring, Physiologic; D009579:Nitrobenzoates / Q000009:adverse effects / Q000494:pharmacology / Q000627:therapeutic use*; D020176:Tyrosinemias / Q000150:complications / Q000188:drug therapy* / Q000503:physiopathology
chemical_list: D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; D015111:4-Hydroxyphenylpyruvate Dioxygenase; C077073:nitisinone