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.


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.
Santra
Saikat
S
Birmingham Children's Hospital, The Liver Unit, Steelhouse Lane, Birmingham, B4 6NH, UK.
Baumann
Ulrich
U
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
D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; D015111:4-Hydroxyphenylpyruvate Dioxygenase; C077073:nitisinone