Disorders of tyrosine metabolism

Inborn Metabolic Diseases: Diagnosis and Treatment

Volumn , Issue , 2006, Pages 233-243

  Chakrapani, Anupam ^a   Holme, Elisabeth ^b  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84895342816     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-28785-8_18     Document Type: Chapter

References (68)

1. van Spronsen FJ, Thomasse Y, Smit GP et al (1994) Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 20:1187-1191
2. Russo PA, Mitchell GA, Tanguay RM (2001) Tyrosinemia: a review. Pediatr Dev Pathol 4:212-221
3. Weinberg AG, Mize CE, Worthen HG (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 88:434-438
4. Forget S, Patriquin HB, Dubois J et al (1999) The kidney in children with tyrosinemia: sonographic, CT and biochemical findings. Pediatr Radiol 29:104-108
5. Mitchell G, Larochelle J, Lambert M et al (1990) Neurologic crises in hereditary tyrosinemia. N Engl J Med 322:432-437
6. Edwards MA, Green A, Colli A, Rylance G (1987) Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy. Lancet 1:1437-1438
7. Lindberg T, Nilsson KO, Jeppsson JO (1979) Hereditary tyrosinaemia and diabetes mellitus. Acta Paediatr Scand 68:619-620
8. Manabe S, Sassa S, Kappas A (1985) Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts. J Exp Med 162:1060-1074
9. Jorquera R, Tanguay RM (1997) The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Biophys Res Commun 232:42-48
10. Grompe M (2001) The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 21:563-571
11. Endo F, Sun MS (2002) Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells. J Inherit Metab Dis 25:227-234
12. Tanguay RM, Jorquera R, Poudrier J, St Louis M (1996) Tyrosine and its catabolites: from disease to cancer. Acta Biochim Pol 43:209-216
13. Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P (1994) Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 94:1657-1661
14. Demers S, I, Russo P, Lettre F, Tanguay RM (2003) Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. Hum Pathol 34:1313-1320
15. Roth KS, Carter BE, Higgins ES (1991) Succinylacetone effects on renal tubular phosphate metabolism: a model for experimental renal Fanconi syndrome. Proc Soc Exp Biol Med 196:428-431
16. Giger U, Meyer UA (1983) Effect of succinylacetone on heme and cytochrome P450 synthesis in hepatocyte culture. FEBS Lett 153:335-338
17. Tschudy DP, Hess A, Frykholm BC, Blease BM (1982) Immunosuppressive activity of succinylacetone. J Lab Clin Med 99:526-532
18. Stenson PD, Ball EV, Mort M et al (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577-581
19. Poudrier J, Lettre F, Scriver CR et al (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Mol Genet Metab 64:119-125
20. Rootwelt H, Brodtkorb E, Kvittingen EA (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. Am J Hum Genet 55:1122-1127
21. Kvittingen EA, Halvorsen S, Jellum E (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. Pediatr Res 17:541-544
22. Kvittingen EA, Jellum E, Stokke O (1981) Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. Clin Chim Acta 115:311-319
23. Laberge C, Grenier A, Valet JP, Morissette J (1990) Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. Am J Hum Genet 47:325-328
24. Halvorsen S (1980) Screening for disorders of tyrosine metabolism. In: Bickel H, Guthrie R, Hammersen G (eds) Neonatal screening for inborn errors of metabolism. Springer, Berlin Heidelberg New York, pp 45-57
25. Pollitt RJ, Green A, McCabe CJ et al (1997) Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess 1:37-47
26. McCormack MJ, Walker E, Gray RG et al (1992) Fumarylacetoacetase activity in cultured and non-cultured chorionic villus cells, and assay in two high-risk pregnancies. Prenat Diagn 12:807-813
27. Kvittingen EA, Steinmann B, Gitzelmann R et al (1985) Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells. Pediatr Res 19:334-337
28. Jakobs C, Stellaard F, Kvittingen EA et al (1990) First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination. Prenat Diagn 10:133-134
29. Poudrier J, Lettre F, St Louis M, Tanguay RM (1999) Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid. Prenat Diagn 19:61-63
30. Lock EA, Ellis MK, Gaskin P et al (1998) 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 21:498-506
31. Holme E, Lindstedt S (2000) Nontransplant treatment of tyrosinemia. Clin Liver Dis 4:805-814
32. Hall MG, Wilks MF, Provan WM et al (2001) 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 52:169-177
33. Vogel A, van dB, I, Al Dhalimy M et al (2004) Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death. Hepatology 39:433-443
34. Dr. Julie Reed. (2004) Birmingham Children's Hospital. Personal Communication
35. Mohan N, McKiernan P, Preece MA et al (1999) Indications and outcome of liver transplantation in tyrosinaemia type 1. Eur J Pediatr 158 [Suppl 2]: S49-S54
36. Wijburg FA, Reitsma WC, Slooff MJ et al (1995) Liver transplantation in tyrosinaemia type I: the Groningen experience. J Inherit Metab Dis 18:115-118
37. Laine J, Salo MK, Krogerus L et al (1995) The nephropathy of type I tyrosinemia after liver transplantation. Pediatr Res 37:640-645
38. Freese DK, Tuchman M, Schwarzenberg SJ et al (1991) Early liver transplantation is indicated for tyrosinemia type I. J Pediatr Gastroenterol Nutr 13:10-15
39. Wilson CJ, Van Wyk KG, Leonard JV, Clayton PT (2000) Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia. J Inherit Metab Dis 23:677-683
40. Dr. P McKiernan (2004) Birmingham Children's Hospital. Personal Communication
41. Buist N R M, Kennaway NG, Fellman JH (1985) Tyrosinaemia type II. In: Bickel H, Wachtel U (eds) Inherited diseases of amino acid metabolism. Thieme, Stuttgart, pp 203-235
42. Heidemann DG, Dunn SP, Bawle E, V, Shepherd DM (1989) Early diagnosis of tyrosinemia type II. Am J Ophthalmol 107:559-560
43. Paige DG, Clayton P, Bowron A, Harper JI (1992) I. Richner-Hanhart syndrome (oculocutaneous tyrosinaemia, tyrosinaemia type II). J R Soc Med 85:759-760
44. Rabinowitz LG, Williams LR, Anderson CE et al (1995) Painful keratoderma and photophobia: hallmarks of tyrosinemia type II. J Pediatr 126:266-269
45. Fois A, Borgogni P, Cioni M et al (1986) Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia. J Inherit Metab Dis 9:262-264
46. Bohnert A, Anton-Lamprecht I (1982) Richner-Hanhart syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels. J Invest Dermatol 72:68-74
47. Macsai MS, Schwartz TL, Hinkle D et al (2001) Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Ophthalmol 132:522-527
48. Barr DG, Kirk JM, Laing SC (1991) Outcome in tyrosinaemia type II. Arch Dis Child 66:1249-1250
49. Cerone R, Fantasia AR, Castellano E et al (2002) Pregnancy and tyrosinaemia type II. J Inherit Metab Dis 25:317-318
50. Francis DE, Kirby DM, Thompson GN (1992) Maternal tyrosinaemia II: management and successful outcome. Eur J Pediatr 151:196-199
51. Chitayat D, Balbul A, Hani V et al (1992) Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus. J Inherit Metab Dis 15:198-203
52. Ellaway CJ, Holme E, Standing S, Preece MA et al (2001) Outcome of tyrosinaemia type III. J Inherit Metab Dis 24:824-832
53. Rüetschi U, Cerone R, Pérez CC et al (2000) Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum Genet 106:654-662
54. Rice DN, Houston IB, Lyon IC et al (1998) Transient neonatal tyrosinaemia. J Inherit Metab Dis 12:13-22
55. Mamunes P, Prince PE, Thornton NH et al (1976) Intellectual deficits after transient tyrosinemia in the term neonate. Pediatrics 57:675-680
56. Phornphutkul C., Introne WJ, Perry MB et al (2002) Natural history of alkaptonuria. N Engl J Med 347:2111-2121
57. Garrod AE (1902) The incidence of alkaptonuria: a study in chemical individuality. Lancet 2:1616-1620
58. Crissy RE, Day AJ (1950) Ochronosis: a case report. J Bone Joint Surg Am 32:688
59. Murray JC, Lindberg KA, Pinnell SR (1977) In vitro inhibition of chick embryo lysyl oxidase by homogentisic acid. A proposed connective tissue defect in alkaptonuria. J Clin Invest 59:1071-1079
60. Bory C, Boulieu R, Chantin C, Mathieu M (1990) Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC. Clin Chim Acta 189:7-11
61. Fernández-Cañón JM, Peñalva MA (1997) Spectrophotometric determination of homogentisate using aspergillus nidulans homogentisate dioxygenase. Anal Biochem 245:218-221
62. de Haas V, Carbasius Weber EC, de Clerk JB et al (1998) The success of dietary protein restriction of alkaptonuria patients is agedependent. J Inherit Metab Dis 21:791-798
63. Lustberg TJ, Schulmanm JD, Seegmiller JE (2004) Decreased binding of 14-C homogentisic acid induced by ascorbic acid in connective tissue of rats with experimental alkaptonuria. Nature 228:770-771
64. Wolff JA, Barshop B, Nyhan W et al (1989) Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res 26:140-144
65. Niederwieser A, Matasovic A, Tippett P, Danks D (1977) A new sulfur amino acid, named Hawkinsin, identified in a baby with transient tyrosinemia and her mother. Clin Chim Acta 76:345-356
66. Wilcken B, Hammond J, Howard N et al (1981) Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. N Engl J Med 305:865-868
67. Borden M, Holm J, Leslie J et al (1992) Hawkinsinuria in two families. Am J Med Genet 44:52-56
68. Nyhan W (1984) Hawkinsinuria. In: Nyhan W (ed) Abnormalities in amino acid metabolism in clinical medicine. Appleton-Century-Crofts, Norwalk, CT