Hereditary tyrosinaemia type I: from basics to progress in treatment

References

• Lindblad B, Lindstedt S, Steen G. On the enzymic defect in hereditary tyrosinemia. Proc Natl Acad Sci USA 1977; 74: 4641–5
   PubMed Web of Science ®Google Scholar
• Mitchell GA, Lambert M, Tanguay RM. Hypertyrosinemia. The Metabolic and molecular bases of inherited disease. 7th Edn, CR Scriver, AL Beaudet, WS Sly, D Valle. McGraw-Hill Co, New York, NY 1995; 1077–106
   Google Scholar
• Goldsmith LA, Kang E, Bienfang DC, Jimbow K, Gerald P, Baden HP. Tyrosinemia with plantar and palmar keratosis and keratitis. J Pediatr 1973; 83: 393–8
   Google Scholar
• Scriver CR, Rosenberg LE. Tyrosine. Amino acid metabolism and its disorder, CR Scriver, LE Rosenberg. WB Saunders Co, Philadelphia, PA 1973; 338–52
   Google Scholar
• Tanguay RM, Valet JP, Duband JL, Laberge C, Lettre F, Plante M. 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
   PubMedGoogle Scholar
• Roth KS, Spencer PD, Higgins ES, Spencer RF. Effects of succinylacetone on methyl alpha-D-glucoside uptake by the rat renal tubule. Biochim Biophys Acta 1985; 820: 140–6
   PubMedGoogle Scholar
• Sassa S, Kappas A. Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone. J Clin Invest 1983; 1: 625–34
   Google Scholar
• Berger R, Van Faassen H, Smith GPA. Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia. Clin Chim Acta 1983; 134: 129–41
   PubMedGoogle Scholar
• Berger R, Van Faassen H, Taanman JW, De Vries H, Agsteribbe E. Type I tyrosinemia: lack of immunologically detectable fumarylacetoactase enzyme protein in tissue and cell extracts. Pediatr Res 1987; 22: 394–7
   PubMed Web of Science ®Google Scholar
• Laberge C, Lescault A, Tanguay RM. Hereditary tyrosinemias (type I): A new vista on tyrosine toxicity and cancer. Essential nutrients in carcinogenesis, LA Poirier, PM Newberne, MW Pariza. Plenum, New York, NY 1986; 209–12
   Google Scholar
• Monteiro HP, Abdalla DSP, Augusto O, Bechara EJH. Free radical generation during delta-aminolevulinic acid autoxidation: induction by hemoglobin and connections with porphyrinpathies. Arch Biochem Biophys 1989; 271: 206–16
   PubMed Web of Science ®Google Scholar
• Hermes-Lima M, Valle VGR, Vercesi AE, Bechara EJH. Damage to rat liver mitochondria promoted by delta-aminolevulinic acid-generated reactive oxygen species: connections with acute intermittent porphyria and lead-poisoning. Biochim Biophys Acta 1991; 105: 57–63
   Google Scholar
• Barnes MJ, Morton LF, Bennett RC, Bailey AJ, Sims TJ. Presence of type III collagen in guinea-pig dermal scar. Biochem J 1976; 257: 263–6
   Google Scholar
• Kent G, Gay S, Inouye T, Bahu R, Minick OT, Popper H. Vitamin A-containing lipocytes and formation of type III collagen in liver injury. Proc Natl Acad Set USA 1976; 73: 3719–22
   PubMed Web of Science ®Google Scholar
• Chandrakasan G, Bhatnagar RS. Stimulation of collagen synthesis in fibroblast cultures by superoxide. Cell Mol Biol 1991; 37: 751–5
   PubMed Web of Science ®Google Scholar
• Tanguay RM, Jorquera R, Poudrier J, St-Louis M. Tyrosine and its catabolites: from disease to cancer. Acta Biochim Pol 1996; 43: 209–16
   PubMedGoogle Scholar
• Jorquera R, Tanguay RM. The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Biophys Res Commun 1997; 232: 42–8
   PubMedGoogle Scholar
• Kubo S, Sun M, Miyahara M, Umeyama K, Urakami K, Yamamoto T. Hepatocyte injury in tyrosinemia type I is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. Proc Natl Acad Sci USA 1998; 4: 9552–7
   Google Scholar
• Endo F, Kubo S, Awata H, Kiwaki K, Katoh H, Kanegae Y. 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; 26: 24426–32
   Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R. 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
   PubMedGoogle Scholar
• 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
   PubMedGoogle Scholar
• Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I. Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I. Biochim Biophys Acta 1994; 1226: 168–72
   PubMedGoogle Scholar
• Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM. Type I hereditary tyrosinemia. Evidence for molecular heterogenity and identification of a causal mutation in a French Canadian patient. J Clin Invest 1992; 90: 1185–92
   PubMed Web of Science ®Google Scholar
• Grompe M, Al-Dhalimy M. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Hum Mutat 1993; 2: 85–93
   PubMedGoogle Scholar
• Grompe M, St-Louis M, Demers SI, Al-Dhalimy M, Leclerc B, Tanguay RM. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type 1. N Engl J Med 1994; 331: 353–7
   PubMed Web of Science ®Google Scholar
• Hahn SH, Krasnewich DM, Brantly ML, Kvittingen EA, Gahl WA. Heterozygosity of an exon 12 splicing mutation and a W234X mutation in an American child with chronic tyrosinemia type I. Hum Mutat 1995; 6: 66–73
   PubMedGoogle Scholar
• Rootwelt H, Chou J, Gahl WA, Berger R, Coskun T, Brodtkorb E. Two missense mutations causing tyrosinemia type I with presence and absence of immuno-reactive fumarylacetoacetase. Hum Genet 1994; 93: 615–9
   PubMedGoogle Scholar
• Rootwelt H, Kristensen T, Berger R, Hoie K, Kvittingen EA. Tyrosinemia type I: complex spiking defects and a missense mutation in the fumarylacetoacetase gene. Hum Genet 1994; 94: 235–9
   PubMedGoogle Scholar
• Rootwelt H, Berger R, Gray G, Kelly DA, Coskun T, Kvittingen EA. Novel splice, missense and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type I. Am J Hum Genet 1994; 55: 653–8
   PubMed Web of Science ®Google Scholar
• 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
   Google Scholar
• St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM. Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. Hum Mol Genet 1994; 3: 69–72
   PubMed Web of Science ®Google Scholar
• St-Louis M, Poudrier J, Phaneuf D, Leclerc B, Laframboise R, Tanguay RM. Two novel mutations involved in hereditary tyrosinemia type I. Hum Mol Genet 1995; 4: 319–20
   PubMedGoogle Scholar
• Pools van Amstel JK, Bergman A JIW, van Beurden E ACM, Roijers JEM, Peelen T, Berg van den IET. Hereditary tyrosinemia type I: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. Hum Genet 1996; 97: 51–9
   PubMedGoogle Scholar
• Timmers C, Grompe M. Six novel mutations involved in the fumarylacetoacetate hydrolase gene in patients with hereditary tyrosinemia type I. Hum Mutat 1996; 7: 367–9
   PubMedGoogle Scholar
• St-Louis M, Tanguay RM. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. Hum Mutat 1997; 9: 291–9
   PubMedGoogle Scholar
• Bergman AJIW, Van den Berg IET, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type I patients in Nortwestern Europe and Mediterranean countries. Hum Mutat 1998; 12: 19–26
   PubMed Web of Science ®Google Scholar
• Kvittingen EA, Rootwelt T, Van Dam T, Van Faassen H, Berger R. Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein. Pediatr Res 1992; 31: 43–6
   PubMedGoogle Scholar
• Klebig ML, Russell LB, Rinchik EM. Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus. Proc Natl Acad Sci USA 1992; 15: 1363–7
   Google Scholar
• Ruppert S, Kelsey G, Schedl A, Schmid E, Thies E, Schutz G. Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice. Genes Dev 1992; 6: 1430–43
   PubMedGoogle Scholar
• Kelsey G, Ruppert S, Beertmann F, Grund C, Tanguay RM, Schutz G. Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type I. Genes Dev 1993; 7: 2285–97
   PubMed Web of Science ®Google Scholar
• Collins JC, Buchanan DN, Thoene JG, Erickson RP, Brooks SS, Gluecksohn-Waelsch S. Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities. Biochem Biophys Res Commun 1992; 31: 340–6
   Google Scholar
• Overturf K, Al-Dhalimy M, Manning K, Ou CN, Finegold M, Grompe M. Ex vivo hepatic gene therapy of a mouse model of hereditary tyrosinemia type I. Hum Gene Ther 1998; 10: 295–304
   Google Scholar
• Overturf K, Al-Dhalimy M, Tanguay R, Brantly M, Ou CN, Finegold M. Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinemia type I. Nat Genet 1996; 12: 266–73
   PubMed Web of Science ®Google Scholar
• Overturf K, Al-Dhalimy M, Ou CN, Finegold M, Tanguay R, Lieber A. Adenovirus-mediated gene therapy in mouse model of hereditary tyrosinemia type I. Hum Gene Ther 1997; 20: 513–21
   Google Scholar
• Kvittingen EA. Hereditary tyrosinemia type I—an overview. Scand J Clin Lab Invest 1986; 46: 27–34
   PubMedGoogle Scholar
• Laberge C. Hereditary tyrosinemia in a French Canadian isolate. Am J Hum Genet 1969; 21: 36–45
   PubMedGoogle Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Mustonen A, Ploos van Amstel HK, Berger R, Salo MK, Viinikka L, Simola KOJ. Mutation analysis for prenatal diagnosis of hereditary tyrosinemia type I. Prenat Diagn 1997; 17: 964–6
   PubMedGoogle Scholar
• Van Spronsen FJ, Thomasse Y, Smit GPA, Leonard JV, Clayton PT, Fidler V. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 1994; 20: 1187–91
   PubMed Web of Science ®Google Scholar
• Edwards MA, Green A, Colli A, Rylance G. Tyrosinemia type I and hyperthrophic obstructive cardiomyopathy. Lancet 1987; 1: 1437–8
   PubMed Web of Science ®Google Scholar
• Weinberg AG, Mize CE, Worten HG. The occurence of hepatoma in the cronic form of hereditary tyrosinemia. J Pediatr 1976; 88: 434–8
   PubMed Web of Science ®Google Scholar
• Mitchell G, Larochelle J, Lambert M, Michaud J, Grenier A, Ogier H. Neurologic crises in hereditary tyrosinemia. N Engl J Med 1990; 322: 432–7
   PubMed Web of Science ®Google Scholar
• Kvittingen EA. Tyrosinemia type I—an update. J Inherit Metab Dis 1991; 14: 554–62
   PubMedGoogle Scholar
• 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
   Google Scholar
• Kvittingen EA, Halvorsen S, Jellum E. Deficient fumaryl-acetoactate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. Pediatr Res 1983; 14: 541–4
   Google Scholar
• Kvittingen EA, Steinmann B, Gitzelmann R, Leonard JV, Andria G, Borresen AL. Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells. Pediatr Res 1985; 19: 334–7
   PubMedGoogle Scholar
• Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R. Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. J Clin Invest 1993; 91: 1816–21
   PubMedGoogle Scholar
• Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P. Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 1994; 94: 1657–61
   PubMed Web of Science ®Google Scholar
• Poudrier J, Lettre F, Scriver CR, Larochelle J, Tanguay RM. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Mol Genet Metab 1998; 64: 119–25
   PubMed Web of Science ®Google Scholar
• 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
   PubMedGoogle Scholar
• Goulden HK, Moss MA, Cole DEC, Tithecott GA, Crocker JFS. Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the litterature. Clin Biochem 1987; 20: 207–12
   PubMedGoogle Scholar
• De Almeida IT, Leandro PP, Silva MFB, Silveira C, Da Suva A, Salazar De Sousa J. Tyrosinemia type I with normal levels of plasma tyrosine. J Inherit Metab Dis 1990; 13: 305–7
   PubMedGoogle Scholar
• Slordahl S, Lie SO, Jellum E, Strokke O. Increased need for L-cysteine in hereditary tyrosinemia. Pediatr Res 1979; 13: 74
   Google Scholar
• Stoner E, Starkman H, Wellner VP, Sassa S, Rifkind AB, Grenier A. Biochemical studies of a patient with hereditary hepatorenal tyrosinemia: evidence for glutathione deficiency. Pediatr Res 1984; 18: 1332–6
   PubMed Web of Science ®Google Scholar
• Gagné R, Lescault A, Grenier A, Laberge C, Mélancon SB, Dallaire L. Prenatal diagnosis of hereditary tyrosinemia: measurement of succinylacetone in amniotic fluid. Prenatal Diagn 1982; 2: 185–8
   PubMedGoogle Scholar
• Jakobs C, Lambertus D, Wikkerink B, Kok RM, De Jong APJM, Wadman SK. 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
   Google Scholar
• McCormack MJ, Walker E, Gray AG, Newton JR, Green A. Fumarylacetoacetase activity in cultured and non-cultured chorionic villus cells, and assay in two high-risk pregnancies. Prenat Diagn 1992; 12: 807–13
   PubMedGoogle Scholar
• Fisch RO, McCabe ERB, Doeden D, Koep LJ, Kohlhoff JG, Silverman A. Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. J Pediatr 1978; 93: 542–96
   PubMedGoogle Scholar
• Dehner LP, Snover DC, Sharp HL, Ascher N, Nakhleh R, Day DL. Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver. Hum Pathol 1989; 20: 149–58
   PubMed Web of Science ®Google Scholar
• Freese DK, Tuchman M, Schwarzenberg SJ, Sharp HL, Rank JM, Bloomer JR. Early liver transplantation is indicated for tyrosinemia type I. J Pediatr Gas Nutr 1991; 13: 10–5
   PubMedGoogle Scholar
• Mieles LA, Esquivel CO, Van Thiel DH, Koneru B, Makowka L, Tzakis AG. Liver transplantation for tyrosinemia. A review of 10 cases from university of Pittsburg. Digest Dis Sci 1990; 35: 153–7
   PubMed Web of Science ®Google Scholar
• Kvittingen EA, Jellum E, Stokke O, Flatmark A, Bergan A, Sodal G. Liver transplantation in a 23-year-old tyrosinemia patient: effects on the renal tubular dysfunction. J Inherit Metab Dis 1986; 9: 216–24
   PubMedGoogle Scholar
• Tuchman M, Freese DK, Sharp HL, Ramnaraine MLR, Asher N, Bloomer JR. 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
   PubMed Web of Science ®Google Scholar
• Flye MW, Riely CA, Hainline BE, Sassa S, Gusberg RJ, Blakemore KJ. The effects of early treatment of hereditary tyrosinemia type I in by orthotopic liver transplantation. Transplantation 1990; 49: 916–21
   PubMedGoogle Scholar
• Paradis K, Weber A, Seidman EG, Larochelle J, Garel L, Lenaerts C. Liver transplantation for hereditary tyrosinemia: the Quebec experience. Am J Hum Genet 1990; 47: 338–42
   PubMed Web of Science ®Google Scholar
• Laine J, Salo MK, Krogerus L, Kärkkäinen J, Wahlroos O, Holmberg C. The nephropathy of type I tyrosinemia after liver transplantation. Pediatr Res 1995; 37: 640–5
   PubMedGoogle Scholar
• Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B. Treatment of hereditary tyrosinemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992; 340: 813–7
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Gibbs PEM, Zielinski R, Boyd C, Dugaiczyk A. Structure, polymorphism, and novel repeated DNA elements revealed by a complete sequence of the human alpha-fetoprotein gene. Biochemistry 1987; 26: 1332–43
   PubMedGoogle Scholar
• Holme E, Lindstedt S. Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 1995; 7: 726–32
   PubMedGoogle Scholar
• Holme E, Lindstedt S, Lock EA. Treatment of tyrosinemia type I with an enzyme inhibitor (NTBC). Int Pediatr 1995; 10: 41–3
   Google Scholar
• Bird S, Miller NJ, Collins JE, Rice-Evans CA. Plasma antioxidant capacity in two cases of tyrosinaemia type I: one case treated with NTBC. J Inker Metab Dis 1995; 18: 123–6
   PubMed Web of Science ®Google Scholar
• Kvittingen EA. Tyrosinaemia—treatment and outcome. J Inker Metab Dis 1995; 18: 375–9
   PubMedGoogle Scholar
• Wu JT. Serum alpha-fetoprotein and its lectin reactivity in liver diseases: a review. Ann Clin Lab Sci 1990; 20: 98–105
   PubMed Web of Science ®Google Scholar
• Murcia FJ, Vazquez J, Gamez M, Santamaria ML, De la Vega A, Diaz MC. Liver transplantation in type I tyrosinemia. Transplant Proc 1995; 27: 2301–2
   PubMed Web of Science ®Google Scholar
• Bast RC, Klug TL, St John E, Jenison E, Niloff JM, Lazarus H. A radioimunoassay using monoclonal antibody to monitor the course of epithelial ovaria cancer. N Engl J Med 1983; 309: 883–7
   PubMed Web of Science ®Google Scholar
• Dietel M, Arps H, Klapdor R, Muller-Hagen S, Sieck M, Hoffman L. Antigen detection by the monoclonal antibodies CA 19–9 and CA 125 in normal and tumor tissue and patients sera. J Cancer Res Clin Oncol 1986; 111: 257–65
   PubMed Web of Science ®Google Scholar
• Pitkänen S, Salo MK, Kuusela P, Holmberg C, Simell O, Heikinheimo M. 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
   PubMed Web of Science ®Google Scholar
• Atkinson BF, Ernst CS, Herlyn M, Steplewski Z, Sears HF, Koprowski H. Gastrointestinal cancer-associated antigen in immunoperoxidase assay. Cancer Res 1982; 42: 4820–3
   PubMed Web of Science ®Google Scholar
• Halvorsen S, Kvittingen EA, Flatmark A. Outcome of therapy of hereditary tyrosinemia. Acta Paediatr Jpn 1988; 30: 425–8
   PubMedGoogle Scholar