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Open Access 01-12-2013 | Review

Recommendations for the management of tyrosinaemia type 1

Authors: Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell, Ute Spiekerkötter

Published in: Orphanet Journal of Rare Diseases | Issue 1/2013

Abstract

The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies.

The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.

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Chakrapani A, Gissen P, McKiernan P: Disorders of Tyrosine Metabolism. Inborn Metabolic Diseases. 5th edition. Edited by: Saudubray J-M, Berghe G, Walter JH. Heidelberg: Springer; 2012:275-276. Chapter 18.

De Braekeleer M, Larochelle J: Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet. 1990, 47: 302-307.PubMedCentralPubMed

Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B: Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet. 1992, 340: 813-817. 10.1016/0140-6736(92)92685-9.PubMedCrossRef

Santra S, Baumann U: Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother. 2008, 9: 1229-1236. 10.1517/14656566.9.7.1229.PubMedCrossRef

Couce ML, Aldámiz-Echevarría L, Baldellou A, Blasco J, Bueno MA, Dalmau J, De La Vega A, Del Toro M, Díaz C, Lama R, Leao E, Marrero M, Navas VM, Pintos G: Recommendations and management of type I hereditary or hepatorenal tyrosinemia. An Pediatr (Barc). 2010, 73: 279-e1-4CrossRef

Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier De Baulny H, French-Belgian study group for HT-1: Heterogeneity of follow-up procedures in French and Belgian patients with treated Hereditary tyrosinaemia type 1: results of a questionnaire and proposed guidelines. J Inherit Metab Dis. 2012, 35: 823-829. 10.1007/s10545-011-9429-y.PubMedCrossRef

Baumann U, Preece MA, Green A, Kelly DA, McKiernan PJ: Hyperinsulinism in tyrosinaemia type I. J Inherit Metab Dis. 2005, 28: 131-135. 10.1007/s10545-005-5517-1.PubMedCrossRef

van Spronsen FJ, Thomasse Y, Smit GP, Leonard JV, Clayton PT, Fidler V, Berger R, Heymans HS: Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology. 1994, 20: 1187-1191. 10.1002/hep.1840200513.PubMedCrossRef

Epov L, Srugo I, Kassis I, Bar-Joseph G, Mandel H, Kugelman A: 'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation). Diagnosis: Hereditary tyrosinaemia type I presenting as E.coli septicaemia. Acta Paediatr. 2010, 99: 1437-1438. 10.1111/j.1651-2227.2010.01901.x.CrossRef

10.

Arora N, Stumper O, Wright J, Kelly DA, McKiernan PJ: Cardiomyopathy in tyrosinaemia type I is common but usually benign. J Inherit Metab Dis. 2006, 29: 54-57. 10.1007/s10545-006-0203-5.PubMedCrossRef

11.

Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA: Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab. 2012, Epub ahead of print

12.

Morrissey MA, Sunny S, Fahim A, Lubowski C, Caggana M: Newborn screening for Tyr-I: two years' experience of the New York State program. Mol Genet Metab. 2011, 103: 191-192. 10.1016/j.ymgme.2011.02.017.PubMedCrossRef

13.

14.

Schlump JU, Mayatepek E, Spiekerkoetter U: Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. Eur J Pediatr. 2010, 169: 569-572. 10.1007/s00431-009-1074-1.PubMedCrossRef

15.

Hostetter MK, Levy HL, Winter HS, Knight GJ, Haddow JE: Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med. 1983, 308: 1265-1267. 10.1056/NEJM198305263082105.PubMedCrossRef

16.

Holme E, Lindstedt S: Tyrosinemia type I and NTBC. J Inher Metab Dis. 1998, 21: 507-517. 10.1023/A:1005410820201.PubMedCrossRef

17.

Coenegrachts K, Delanote J, Ter Beek L, Haspeslagh M, Bipat S, Stoker J, Van Kerkhove F, Steyaert L, Rigauts H, Casselman JW: Improved focal liver lesion detection: comparison of single-shot diffusion-weighted echoplanar and single-shot T2 weighted turbo spin echo techniques. Br J Radiol. 2007, 80: 524-531. 10.1259/bjr/33156643.PubMedCrossRef

18.

Parikh T, Drew SJ, Lee VS, Wong S, Hecht EM, Babb JS, Taouli B: Focal liver lesion detection and characterization with diffusion-weighted MR imaging: comparison with standard breath-hold T2-weighted imaging. Radiology. 2008, 246: 812-822. 10.1148/radiol.2463070432.PubMedCrossRef

19.

Hall MG, Wilks MF, Provan WM, Eksborg S, Lumholtz B: 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: 169-177. 10.1046/j.0306-5251.2001.01421.x.PubMedCentralPubMedCrossRef

20.

Schlune A, Thimm E, Herebian D, Spiekerkoetter U: Single dose NTBC treatment of hereditary tyrosinaemia type 1. J Inherited Metab Dis. 2012, 35: 831-836. 10.1007/s10545-012-9450-9.PubMedCrossRef

21.

Schlump JU, Perot C, Ketteler K, Schiff M, Mayatepek E, Wendel U, Spiekerkoetter U: Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment. J Inherit Metab Dis. 2008, 31 (Suppl 2): S223-S225.PubMedCrossRef

22.

Holme E: Disorders of tyrosine degradation. Physicians Guide to the Treatment and Follow-Up of Metabolic Diseases. Edited by: Blau N, Leonard J, Hoffmann GF, Clarke JTR. Berlin: Springer; 2006:49-56.CrossRef

23.

Herebian D, Spiekerkötter U, Lamshöft M, Thimm E, Laryea M, Mayatepek E: Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of yrosinaemia type 1 patients. J Chromatogr B Analyt Technol Biomed Life Sci. 2009, 877: 1453-1459. 10.1016/j.jchromb.2009.03.014.PubMedCrossRef

24.

El-Karaksy H, Rashed M, El-Sayed R, El-Raziky M, El-Koofy N, El-Hawary M, Al-Dirbashi O: Clinical practice. NTBC therapy for yrosinaemia type 1: how much is enough?. Eur J Pediatr. 2010, 169: 689-693. 10.1007/s00431-009-1090-1.PubMedCrossRef

25.

D’Eufemia P, Celli M, Tetti M, Finocchiaro R: Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended. Eur J Pediatr. 2011, 170: 819-10.1007/s00431-011-1419-4.PubMedCrossRef

26.

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 yrosinaemia type I. New Eng J Med. 1994, 331: 353-357. 10.1056/NEJM199408113310603.PubMedCrossRef

27.

Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldámiz-Echevarría L: Spanish Working Group on Tyrosinemia type 1.Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. Pediatr Int. 2011, 53: 985-989. 10.1111/j.1442-200X.2011.03427.x.PubMedCrossRef

28.

On line Mendelian Inheritance in man: Tyrosinemia type 1.http://omim.org/entry/276700,

29.

La Marca G, Malvagia S, Materazzi S, Della Bona ML, Boenzi S, Martinelli D, Dionisi-Vici C: LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. Anal Chem. 2012, 84: 1184-1188. 10.1021/ac202695h.PubMedCrossRef

30.

Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ: Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?. Mol Genet Metab. 2006, 89: 310-315. 10.1016/j.ymgme.2006.07.009.PubMedCrossRef

31.

Baumann U, Duhme V, Auth MK, McKiernan PJ, Holme E: Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma. J Pediatr Gastroenterol Nutr. 2006, 43: 77-82. 10.1097/01.mpg.0000228112.29359.f8.PubMedCrossRef

32.

Thimm E, Herebian D, Assmann B, Klee D, Mayatepek E, Spiekerkoetter U: Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. Mol Genet Metab. 2011, 102: 122-125. 10.1016/j.ymgme.2010.11.003.PubMedCrossRef

33.

Wilson CJ, Van Wyk KG, Leonard JV, Clayton PT: Phenylalanine supplementation improves the phenylalanine in tyrosinaemia. J Inherit Metab Dis. 2000, 23: 677-683. 10.1023/A:1005666426079.PubMedCrossRef

34.

Daly A, Gokmen-Ozel H, MacDonald A, Preece MA, Davies P, Chakrapani A, McKiernan P: Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?. J Hum Nutr Diet. 2012, 25: 111-116. 10.1111/j.1365-277X.2011.01215.x.PubMedCrossRef

35.

Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, de Baulny HO, Touati G: NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis. 2008, 31: 81-87. 10.1007/s10545-008-0793-1.PubMedCrossRef

36.

De Laet C, Munoz VT, Jaeken J, François B, Carton D, Sokal EM, Dan B, Goyens PJ: Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1. Dev Med Child Neurol. 2011, 53: 962-964. 10.1111/j.1469-8749.2011.04048.x.PubMedCrossRef

37.

Thimm E, Richter-Werkle R, Kamp G, Molke B, Herebian D, Klee D, Mayatepek E, Spiekerkoetter U: Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis. 2012, 35: 263-268. 10.1007/s10545-011-9394-5.PubMedCrossRef

38.

Crone J, Möslinger D, Bodamer OA, Schima W, Huber WD, Holme E, Stöckler Ipsiroglu S: Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr. 2003, 92: 625-628. 10.1111/j.1651-2227.2003.tb02518.x.PubMedCrossRef

39.

Gissen P, Preece MA, Willshaw HA, McKiernan PJ: Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC. J Inherit Metab Dis. 2003, 26: 13-16. 10.1023/A:1024011110116.PubMedCrossRef

40.

Lock EA, Gaskin P, Ellis M, Provan WM, Smith LL: Tyrosinemia produced by 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) in experimental animals and its relationship to corneal injury. Toxicol Appl Pharmacol. 2006, 215: 9-16. 10.1016/j.taap.2006.01.015.PubMedCrossRef

41.

Vanclooster A, Devlieger R, Meersseman W, Spraul A, Vande Kerckhove K, Vermeersch P, Meulemans A, Allegaert K, Cassiman D: Pregnancy during nitisinone treatment for tyrosinemia type I: first human experience. J Inherit Metab Dis. in press

42.

Garcia Segarra N, Roche S, Benoist JF, Spraul A, Ogier De Baulny H: Fetal and Maternal Tyrosinemia type 1. submitted for publication

43.

Poudrier J, Lettre F, St-Louis M, Tanguay RM: Genotyping of a case of tyrosinemia type I with a normal level of succinylacetone in amniotic fluid. Prenat Diagn. 1999, 19: 61-63. 10.1002/(SICI)1097-0223(199901)19:1<61::AID-PD455>3.0.CO;2-#.PubMedCrossRef

Title: Recommendations for the management of tyrosinaemia type 1
Authors: Corinne de Laet
Carlo Dionisi-Vici
James V Leonard
Patrick McKiernan
Grant Mitchell
Lidia Monti
Hélène Ogier de Baulny
Guillem Pintos-Morell
Ute Spiekerkötter
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2013
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-8-8

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