Nitisinone in the treatment of hereditary tyrosinaemia type 1

Drugs

Volumn 66, Issue 6, 2006, Pages 743-750

  McKiernan, Patrick J ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARYLACETOACETASE; NITISINONE; PHENYLALANINE; TYROSINE;

CARDIOMYOPATHY; CHRONIC LIVER DISEASE; CLINICAL FEATURE; CYTOTOXICITY; DIET RESTRICTION; DRUG ABSORPTION; DRUG HALF LIFE; DRUG TOLERABILITY; EYE TOXICITY; GENE MUTATION; HUMAN; KIDNEY DISEASE; KIDNEY TUBULE FUNCTION; LIVER CELL CARCINOMA; LIVER FAILURE; LIVER TRANSPLANTATION; METABOLIC REGULATION; NEUTROPENIA; NEWBORN SCREENING; NONHUMAN; PORPHYRIA; REVIEW; THROMBOCYTOPENIA; TYROSINEMIA;

CARCINOMA, HEPATOCELLULAR; CYCLOHEXANONES; ENZYME INHIBITORS; HUMANS; KIDNEY DISEASES; LIVER DISEASES; LIVER FAILURE; LIVER NEOPLASMS; LIVER TRANSPLANTATION; MONITORING, PHYSIOLOGIC; NITROBENZOATES; TYROSINE; TYROSINEMIAS;

EID: 33646766481     PISSN: 00126667     EISSN: 00126667     Source Type: Journal    
DOI: 10.2165/00003495-200666060-00002     Document Type: Review

References (48)

1. Russo PA, Mitchell GA, Tanguay RM. Tyrosinemia: a review. Pediatr Dev Pathol 2001; 4: 212-21
2. Heath SK, Gray RG, McKiernan P, et al. Mutation screening for tyrosinaemia type I. J Inherit Metab Dis 2002; 25: 523-4
3. Mitchell GA, Grompe M, Lambert M, et al. Hypertyrosinemia. In: Scriver CR Beaudet AR, Sly W, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001: 1777-805
4. van Spronsen FJ, Thomasse Y, Smit GP, et al. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 1994; 20: 1187-91
5. Mohan N, McKiernan P, Preece MA, et al. Indications and outcome of liver transplantation in tyrosinaemia type 1. Eur J Pediatr 1999; 158 Suppl. 2: S49-54
6. Jorquera R, Tanguay RM. Cyclin B-dependent kinase and caspase-1 activation precedes mitochondrial dysfunction in fumarylacetoacetate-induced apoptosis. FASEB J 1999; 13: 2284-98
7. Kubo S, Sun M, Miyahara M, et al. Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. Proc Natl Acad Sci U S A 1998; 95: 9552-7
8. Jorquera R, Tanguay RM. Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet 2001; 10: 1741-52
9. Luijerink MC, Jacobs SM, van Beurden EA, et al. Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3- cyclohexanedione (NTBC). J Hepatol 2003; 39: 901-9
10. Prieto-Alamo MJ, Laval F. Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. Proc Natl Acad Sci U S A 1998; 95: 12614-8
11. Tschudy DP, Ebert PS, Hess RA, et al. Growth inhibitory activity of succinylacetone: studies with Walker 256 carcinosarcoma, Novikoff hepatoma and L1210 leukemia. Oncology 1983; 40: 148-54
12. Endo F, Kubo S, Awata H, et al. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. J Biol Chem 1997; 272: 24426-32
13. Al Dhalimy M, Overturf K, Finegold M, et al. Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I. Mol Genet Metab 2002; 75: 38-45
14. Poudrier J, Lettre F, Scriver CR, et al. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Mol Genet Metab 1998; 64: 119-25
15. Heath SK, Gray RG, McKiernan P, et al. Mutation screening for tyrosinaemia type I. J Inherit Metab Dis 2002; 25: 523-4
16. Vogel A, van Den Berg I, Al-Dhalimy M, et al. Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death. Hepatology 2004; 39: 433-43
17. Grompe M. The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 2001; 21: 563-71
18. Kvittingen EA, Rootwelt H, Berger R, et al. Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 1994; 94: 1657-61
19. Demers SI, Russo P, Lettre F, et al. Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. Hum Pathol 2003; 34: 1313-20
20. Kim SZ, Kupke KG, Ierardi-Curto L, et al. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. J Inherit Metab Dis 2000; 23: 791-804
21. Sokal EM, Bustos R, Van Hoof F, et al. Liver transplantation for hereditary tyrosinemia: early transplantation following the patient's stabilization. Transplantation 1992; 54: 937-9
22. Lock EA, Ellis MK, Gaskin P, et al. From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4- trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug. J Inherit Metab Dis 1998; 21: 498-506
23. Lindstedt S, Holme E, Lock EA, et al. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992; 340: 813-7
24. Holme E, Lindstedt S. Nontransplant treatment of tyrosinemia. Clin Liver Dis 2000; 4: 805-14
25. Lock EA, Gaskin P, Ellis MK, et al. Tissue distribution of 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) and its effect on enzymes involved in tyrosine catabolism in the mouse. Toxicology 2000; 144: 179-87
26. Lock EA, Gaskin P, Ellis MK, et al. The effect of a low-protein diet and dietary supplementation of threonine on tyrosine and 2-(2-nitro-4- trifluoromethylbenzoyl) cyclohexane-1,3-dione-induced corneal lesions, the extent of tyrosinemia, and the activity of enzymes involved in tyrosine catabolism in the rat. Toxicol Appl Pharmacol 1998; 150: 125-32
27. Hall MG, Wilks MF, Provan WM, et al. Pharmacokinetics and pharmacodynamics of NTBC (2-(2-nitro-4-fluoromethylbenzoyl)-1,3- cyclohexanedione) and mesotrione, inhibitors of 4-hydroxyphenyl pyruvate dioxygenase (HPPD) following a single dose to healthy male volunteers. Br J Clin Pharmacol 2001; 52: 169-77
28. Holme E, Lindstedt S. Tyrosinaemia type I and NTBC (2-(2-nitro-4- trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 1998; 21: 507-17
29. Barkaoui E, Debray D, Habes D, et al. Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I [in French]. Arch Pediatr 1999; 6: 540-4
30. Croffie JM, Gupta SK, Chong SK, et al. Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure. Pediatrics 1999; 103: 675-8
31. Joshi SN, Venugopalan P. Experience with NTBC therapy in hereditary tyrosinaemia type I: an alternative to liver transplantation. Ann Trop Paediatr 2004; 24: 259-65
32. Crone J, Moslinger D, Bodamer OA, et al. Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr 2003; 92: 625-8
33. McKiernan PJ, Baumann U, Preece MA, et al. Should we monitor lectin reactive alpha-fetoprotein in children with tyrosinaemia type 1? J Inherit Metab Dis 2005; 28 Suppl. 1: 58
34. Alvares F, Bussieres J-F, Dallaire L, et al. Nitisinone (NTBC) treatment of hepatorenal tyrosinaemia in Quebec. J Inherit Metab Dis 2005; 28 Suppl. 1: 49
35. Arora N, Stumper O, Wright J, et al. Cardiomyopathy in tyrosinaemia type 1 is common but usually resolves. J Inherit Metab Dis 2006 Feb; 29 (1): 54-57
36. Gibbs TC, Payan J, Brett EM, et al. Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase. J Neurol Neurosurg Psychiatry 1993; 56: 1129-32
37. Baumann U, Duhme V, Knerr I, et al. Lectin-reactive alpha-fetoprotein in tyrosinaemia type I [in German]. Klin Padiatr 2005; 217: 142-6
38. Ellaway CJ, Holme E, Standing S, et al. Outcome of tyrosinaemia type III. J Inherit Metab Dis 2001; 24: 824-32
39. Giardini O, Cantani A, Kennaway NG, et al. Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement. Pediatr Res 1983; 17: 25-9
40. Gissen P, Preece MA, Willshaw HA, et al. Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC. J Inherit Metab Dis 2003; 26: 13-6
41. Weinberg AG, Mize CE, Worthen HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 1976; 88: 434-8
42. Perez-Cerda C, Merinero B, Sanz P, et al. Liver transplantation in nine Spanish patients with tyrosinaemia type I. J Inherit Metab Dis 1995; 18: 119-22
43. Dionisi-Vici C, Boglino C, Marcellini M, et al. Tyrosinaemia type 1 with early metastatic heaptocellular carcinoma: combined treatment with NTBC, chemotherapy and surgical mass removal. J Inherit Metab Dis 1997; 20 Suppl. 1: 15
44. van Spronsen FJ, Smit GP, Wijburg FA, et al. Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation. J Inherit Metab Dis 1995; 18: 111-4
45. Pitkanen S, Salo MK, Vettenranta K, et al. Serum type III procollagen in children with type I hereditary tyrosinemia. J Pediatr Gastroenterol Nutr 1999; 29: 38-41
46. Hanauske-Abel HM, Popowicz A, Remotti H, et al. Tyrosinemia I, a model for human diseases mediated by 2-oxoacid-utilizing dioxygenases: hepatotoxin suppression by NTBC does not normalize hepatic collagen metabolism. J Pediatr Gastroenterol Nutr 2002; 35: 73-8
47. Grompe M, Lindstedt S, Al Dhalimy M, et al. Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. Nat Genet 1995; 10: 453-60
48. van Spronsen FJ, Bijleveld CM, van Maldegem BT, et al. Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment. J Pediatr Gastroenterol Nutr 2005; 40: 90-3