Current strategies for the treatment of hereditary tyrosinemia type I

Pediatric Drugs

Volumn 8, Issue 1, 2006, Pages 47-54

  Ashorn, Merja ^a   Pitkänen, Sari ^b   Salo, Matti K ^a   Heikinheimo, Markku ^b  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARYLACETOACETASE; NITISINONE; PHENYLALANINE; TYROSINE;

AMINO ACID METABOLISM; BURN; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CHILD; CLINICAL FEATURE; CLINICAL TRIAL; CORNEA EROSION; CORNEA LESION; CORNEA OPACITY; DIET THERAPY; DRUG COST; DRUG EFFICACY; DRUG RESPONSE; DRUG TOLERABILITY; ENZYME DEFECT; EYE TOXICITY; FOLLOW UP; GENE MUTATION; GENE THERAPY; GENETIC CODE; HEALTH CARE COST; HEREDITARY TYROSINEMIA TYPE 1; HIGH RISK PATIENT; HUMAN; LABORATORY TEST; LIVER CELL CARCINOMA; LIVER DISEASE; LIVER TRANSPLANTATION; MUTATIONAL ANALYSIS; NEUTROPENIA; PATHOGENESIS; PHOTOPHOBIA; PRIORITY JOURNAL; PROGNOSIS; PRURITUS; REVIEW; SYMPTOM; THROMBOCYTOPENIA; TUBULAR DYSFUNCTION; TYROSINEMIA;

CHILD, PRESCHOOL; HUMANS; INFANT; INFANT, NEWBORN; LIVER NEOPLASMS; LIVER TRANSPLANTATION; TYROSINEMIAS;

EID: 33644551216     PISSN: 11745878     EISSN: None     Source Type: Journal    
DOI: 10.2165/00148581-200608010-00004     Document Type: Review

References (69)

1. Lindblad B, Lindstedt S, Steen G. On the enzymatic defect in hereditary tyrosinemia. Proc Natl Acad Sci U S A 1977; 74: 4641-5
2. Russo PA, Mitchell GA, Tanguay RM. Tyrosinemia: a review. Pediatr Dev Pathol 2001; 4: 212-21
3. Nyhan WL, Ozand PT. Tyrosinemia. In: Nyhan WL, Ozand PT, editors. Atlas of metabolic diseases. London: Chapman and Hall Medical, 1998: 153-9
4. Tanguay RM, Valet JP, Duband JL, et al. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am J Hum Genet 1990; 47: 308-16
5. Phaneuf D, Labelle Y, Berube D, et al. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am J Hum Genet 1991; 48: 525-35
6. Labelle Y, Phaneuf D, Tanguay RM. Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Hum Mol Genet 1993; 2: 941-6
7. Awata H, Endo F, Tanoue A, et al. Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I. Biochim Biophys Acta 1994; 1226: 168-72
8. Phaneuf D, Lambert M, Laframboise R, et al. Type I hereditary tyrosinemia: evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest 1992; 90: 1185-92
9. Grompe M, St-Louis M, Demers SI, et al. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med 1994; 331: 353-7
10. Rootwelt H, Chou J, Gahl WA, et al. Two missense mutations causing tyrosinemia type I with presence and absence of immunoreactive fumarylacetoacetase. Hum Genet 1994; 93: 615-9
11. Rootwelt H, Berger R, Gray G, et al. Novel splice, missense and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type I. Am J Hum Genet 1994; 55: 653-8
12. Rootwelt H, Brodtkorb E, Kvittingen EA. Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications of diagnosis of tyrosinemia type I. Am J Genet 1994; 55: 1122-7
13. St-Louis M, Leclerc B, Laine J, et al. Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. Hum Mol Genet 1994; 3: 69-72
14. Bergman AJIW, van den Berg IET, Brink W, et al. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type I patients in Northwestern Europe and Mediterranean countries. Hum Mutat 1998; 12: 19-26
15. Roth KS, Spencer PD, Higgins ES, et al. Effects of succinylacetone of methyl alpha-D-glucoside uptake by the rat renal tubule. Biochim Biophys Acta 1985; 820: 140-6
16. Sassa S, Kappas A. Hereditary tyrosinemia and the heme biosynthetic pathway: profound inhibition of delta-aminolevulinic acid dehydratase activity by sucpharcinylacetone. J Clin Invest 1983; 1: 625-34
17. Berger R, van Faassen H, Smith GPA. Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia. Clin Chim Acta 1983; 134: 129-41
18. Berger R, van Faassen H, Taanman JW, et al. Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissue and cell extracts. Pediatr Res 1987; 22: 394-7
19. Laberge C, Lescault A, Tanguay RM. Hereditary tyrosinemias (type I): a new vista on tyrosine toxicity and cancer. In: Poirier LA, Newberne PM, Pariza MW, editors. Essential nutrients in carcinogenesis. New York: Plenum, 1986: 209-12
20. Hermes-Lima M, Valle VGR, Vercesi AE, et al. Damage to rat liver mithochondria promoted by delta-aminolevulinic acid-generated reactive oxygen species: connections with acute intermittent porphyria and lead poisoning. Biochim Biophys Acta 1991; 105: 57-63
21. Tanguay RM, Jorquera R, Poudrier J, et al. Tyrosine and its catabolites: from disease to cancer. Acta Biochim Pol 1996; 43: 209-16
22. Jorquera R, Tanguay RM. The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Biophys Res Commun 1997; 232: 42-8
23. Kubo S, Sun M, Miyahara M, et al. Hepatocyte injury in tyrosinemia type I is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. Proc Natl Acad Sci U S A 1998; 4: 9552-7
24. Endo F, Kubo S, Awata H, et al. Complete rescue of lethal albino c14oS 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; 26: 24426-32
25. Kvittingen EA. Hereditary tyrosinemia type I: an overview. Scand J Clin Lab Invest 1986; 46: 27-34
26. Labergne C. Hereditary tyrosinemia in a French Canadian isolate. Am J Hum Genet 1969; 21: 36-45
27. De Braekeleer MJ, Larochelle J. Genetic epidemiology of hereditary tyrosinemia in Quebec and the Saguenay-Lac-St Jean. Am J Hum Genet 1990; 47: 302-7
28. Mustonen A, Ploos van Amstel HK, Berger R, et al. Mutation analysis for prenatal diagnosis of hereditary tyrosinemia type I. Prenat Diagn 1997; 17: 964-6
29. van Spronsen FJ, Thomasse Y, Smit GPA, et al. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 1994; 20: 1187-91
30. Kvittingen EA. Tyrosinemia type I: an update. J Inherit Metab Dis 1991; 14: 554-62
31. Kvittingen EA, Brodtkorb E. The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase. Scand J Clin Lab Invest 1986; 184: 35-40
32. Kvittingen EA, Halvorsen S, Jellum E. Deficient fumaryacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. Pediatr Res 1983; 14: 541-4
33. Kvittingen EA, Steinmann B, Gitzelmann R, et al. Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells. Pediatr Res 1985; 19: 334-7
34. 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
35. 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
36. Crone J, Möslinger D, Bodamer OA, et al. Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinemia type I. Acta Paediatr 2003; 92: 625-8
37. Gagne R, Lescault A, Grenier A, et al. Prenatal diagnosis of hereditary tyrosinemia: measurement of succinylacetone in amniotic fluid. Prenatal Diagn 1982; 2: 185-8
38. Jakobs C, Lambertus D, Wikkerink B, et al. Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I. Clin Chim Acta 1988; 223: 223-32
39. McCormack MJ, Walker E, Gray AG, et al. Fumarylacetoacetase activity in cultured and non-cultured chorionic villus cells, and assay in two high-risk pregnancies. Prenat Diagn 1992; 12: 807-13
40. Goulden HK, Moss MA, Cole DEC, et al. Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature. Clin Biochem 1987; 20: 207-12
41. De Almieda IT, Leandro PP, Silva MFB, et al. Tyrosinemia type I with normal levels of plasma tyrosine. J Inherit Metab Dis 1990; 13: 305-7
42. Slordahl S, Lie SO, Jellum E, et al. Increased need for L-cysteine in hereditary tyrosinemia [abstract]. Pediatr Res 1979; 13: 74
43. Stoner E, Starkman H, Wellner VP, et al. Biochemical studies of a patient with hereditary hepatorenal tyrosinemia: evidence of glutathione deficiency. Pediatr Res 1984; 18: 1332-6
44. Lindstedt S, Holme E, Lock EA, et al. Treatment of hereditary tyrosinemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992; 340: 813-7
45. Holme E, Lindstedt S. Tyrosinemia type I and NTBC (2-(2-nitro-4- trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 1998; 21: 507-17
46. Holme E, Lindstedt S. Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 1995; 7: 726-32
47. Holme E, Lindstedt S, Lock EA. Treatment of tyrosinemia type I with an enzyme inhibitor (NTBC). Int Pediatr 1995; 10: 41-3
48. Bird S, Miller NJ, Collins JE, et al. Plasma antioxidant capacity in two cases of tyrosinemia type I: one case treated with NTBC. J Inherit Metab Dis 1995; 18: 123-6
49. Kvittingen EA. Tyrosinemia: treatment and outcome. J Inherit Metab Dis 1995; 18: 375-9
50. Hanauske-Abel HM, Popwicz 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
51. 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-trifluoromethylbenzol)-1,3- cyclohexanedione (NTBC). J Hepatol 2003; 39 (6): 901-9
52. Holme E, Lindstedt S. Nontransplant treatment of tyrosinemia. Clin Liver Dis 2000; 4: 805-14
53. 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 (1): 13-6
54. Shaw V, Lawson M, editors. Tyrosinaemia type I, in clinical paediatric dietetics. 2nd ed. London: Blackwell Science, 2001: 241-62
55. Lahdenne P, Kuusela P, Siimes MA, et al. Biphasic reduction and concanavalin A binding properties of serum alpha-fetoprotein in preterm and term infants. J Pediatr 1991; 118: 272-6
56. Weinberg AG, Mize CE, Worten HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 1976; 88: 434-8
57. Grenier A, Belanger L, Laberge C. Alpha-1-fetoprotein measurement in blood spotted on paper: discriminating test for hereditary tyrosinemia in neonatal mass screening. Clin Chem 1976; 22: 1001-4
58. Fisch RO, McCabe ERB, Doeden D, et al. Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. J Pediatr 1978; 93: 542-96
59. Freese DK, Tuchman M, Schwarzenberger SJ, et al. Early liver transplantation is indicated for tyrosinemia type I. J Pediatr Gastroenterol Nutr 1991; 13: 10-5
60. Wu JT. Serum alpha-fetoprotein and its lectin reactivity in liver diseases: a review. Ann Clin Lab Sci 1990; 20: 98-105
61. Pitkänen S, Salo MK, Kuusela P, et al. Serum levels of oncofetal markers CA 125, CA 19-9 and alpha-fetoprotein in children with hereditary tyrosinemia type I. Pediatr Res 1994; 35: 205-8
62. Dehner LP, Snover DC, Sharp HL, et al. Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver. Hum Pathol 1989; 20: 149-58
63. Mieles LA, Esquivel CO, Van Thiel DH, et al. Liver transplantation for tyrosinemia: a review of 10 cases from the University of Pittsburg. Dig Dis Sci 1990; 35: 153-7
64. Kvittingen EA, Jellum E, Stokke O, et al. Liver transplantation in a 23-year-old tyrosinemia patient: effects on the renal tubular dysfunction. J Inherit Metab Dis 1986; 9: 216-24
65. Tuchman M, Freese DK, Sharp HL, et al. Contribution of extrahepatic tissue to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation. J Pediatr 1987; 110: 399-404
66. Laine J, Salo MK, Krogerus L, et al. The nephropathy of type I tyrosinemia after liver transplantation. Pediatr Res 1995; 37: 640-5
67. Overturf K, Al-Dhalimy M, Manning K, et al. Ex vivo hepatic gene therapy of a mouse model of hereditary tyrosinemia type I. Hum Gene Ther 1998; 10: 295-304
68. Overturf K, Al-Dhalimy M, Tanguay R, et al. Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinemia type I. Nat Genet 1996; 12: 266-73
69. Overturf K, Al-Dhalimy M, Ou CN, et al. Adenovirus-mediated gene therapy in mouse model of hereditary tyrosinemia type I. Hum Gene Ther 1997; 20: 513-21