NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

Journal of Inherited Metabolic Disease

Volumn 31, Issue 1, 2008, Pages 81-87

  Masurel Paulet, A ^a   Poggi Bach, J ^b   Rolland, M O ^c   Bernard, O ^b   Guffon, N ^d   Dobbelaere, D ^e   Sarles, J ^f   Baulny, Ogier O H ^g   Touati, Guy ^h  

^a Medical University of Dijon   (France)

^b BICÊTRE HOSPITAL   (France)

^c HÔPITAL DEBROUSSE   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f TIMONE HOSPITAL   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; AMINO ACID; NITISINONE; PHENYLALANINE; TYROSINE;

ACADEMIC FAILURE; ARTICLE; BUDD CHIARI SYNDROME; CANCER RISK; CLINICAL ARTICLE; COGNITIVE DEFECT; CONCENTRATION LOSS; DIET SUPPLEMENTATION; DRUG DOSE INCREASE; DRUG ERUPTION; DRUG RESPONSE; DRUG TOLERABILITY; DRUG TREATMENT FAILURE; DRUG WITHDRAWAL; FRANCE; HEPATOGRAPHY; HEREDITARY TYROSINEMIA TYPE 1; HUMAN; KERATITIS; LEUKOPENIA; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER FUNCTION; LIVER TRANSPLANTATION; LONG TERM CARE; MEMORY DISORDER; METABOLIC PARAMETERS; NEUROLOGIC DISEASE; NEUTROPENIA; OUTCOME ASSESSMENT; OVERALL SURVIVAL; PATIENT COMPLIANCE; PHOTOPHOBIA; PORTAL HYPERTENSION; PRESCHOOL CHILD; PROGNOSIS; PROTEIN BLOOD LEVEL; PROTEIN RESTRICTION; QUALITY OF LIFE; RETROSPECTIVE STUDY; SKIN DEFECT; SURVIVAL RATE; THROMBOCYTOPENIA; TREATMENT DURATION; TYROSINEMIA; UNSPECIFIED SIDE EFFECT;

CHILD, PRESCHOOL; CYCLOHEXANONES; ENZYME INHIBITORS; FOLLOW-UP STUDIES; FRANCE; HUMANS; INFANT; INFANT, NEWBORN; LIVER; LIVER FUNCTION TESTS; NITROBENZOATES; PATIENT COMPLIANCE; RETROSPECTIVE STUDIES; TIME FACTORS; TREATMENT FAILURE; TYROSINEMIAS;

EID: 40849102507     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0793-1     Document Type: Article

References (22)

1. Al-Dhalamy M, Overturf K, Finegold M, Grompe M (2002) Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I. Mol Genet Metab 75: 38-45.
2. Baumann U, Duhme, Auth MKH, et al (2006) Lectin-reactive alpha-Fetoprotein in patients with Tyrosinaemia Type 1 and Hepatocellular Carcinoma. J Pediatr Gastroenterol Nutr 43: 77-82.
3. Cerone R, Holme E, Schiaffino MC, et al (1997) Tyrosinemia type III: diagnosis and ten-year follow-up. Acta Paediatr 86: 1013-1015.
4. Chakrapani A, Holme E (2006) Disorders of tyrosine metabolism. In: Fernandes J, Saudubray JM, Van Den Berghe G, Walter JH eds. Inborn Metabolic Diseases, 4th edn. Berlin: Springer Medizin Verlag, 233-243.
5. Crone J, Möslinger D, Bodamer OA, et al (2003) Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinemia type I. Acta Paediatr 92: 625-628.
6. Ellaway CJ, Holme E, Standing S (2001) Outcome of tyrosinemia type III. J Inherit Metab Dis 24: 824-832.
7. 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.
8. Holme E, Lindstedt S (1995) Diagnosis and management of tyrosinemia type 1. Curr Opin Pediatr 7: 726-732.
9. Holme E, Lindstedt S (1998) Tyrosinaemia type 1 and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 21: 507-517.
10. Holme E, Lindstedt S (2000) Nontransplant treatment of tyrosinemia. Clin Liver Dis 4: 805-814.
11. Jacobs SM, van Beurden DH, Klomp LW, et al (2006) Kidneys of mice with hereditary tyrosinemia typa 1 are extremely sensitive to cytotoxicity. Pediatr Res 59: 365-370.
12. Jorquera R, Tanguay RM (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet 10: 1741-1752.
13. Joshi SN, Venugopalan P (2004) Experience with NTBC therapy in hereditary tyrosinaemia type 1: An alternative to liver transplantation. Anal Trop Paediatr 24: 259-265.
14. Lindstedt S, Holme E, Lock EA, et al (1992) Treatment of hereditary tyrosinaemia type 1 by inhibition of 4-hydroxyphanylpyruvate dioxygenase. Lancet 340: 813-817.
15. 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.
16. Mitchell G, Larochelle J, Lambert M (1990) Neurologic crises in hereditary tyrosinemia. N Engl J Med 322: 432-437.
17. Mitchell G, Grompe M, Lambert M, et al (2001) Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1777-1805.
18. Mohan N, McKiernan P, Preece MA (1999) Indications and outcome of liver transplantation in tyrosinemia type 1. Eur J Pediatr 158: S49-S54.
19. Russo P, O'Reagan S (1990) Visceral pathology of hereditary tyrosinemia type 1. Am J Hum Genet 47: 317-324.
20. Van Spronsen FJ, Thomasse Y, Smit GPA, et al (1994) Hereditary tyrosinemia type 1: A new clinical classification with difference in prognosis on dietary treatment. Hepatology 5: 1187-1190.
21. Van Spronsen FJ, Smit GPA, Wijburg FA, et al (1995) Tyrosinemia type 1: considerations of treatment strategy and experiences with risk assessment, diet and transplantation. J Inherit Metab Dis 18: 111-114.
22. Van Spronsen FJ, Bijleveld CMA, van Maldegem BT, et al (2005) Hepatocellular carcinoma in hereditary tyrosinemia type 1 despite 2-(2-nitro-4,3-trifluoro-methylbenzoyl)-1,3-cyclohexanedione treatment. J Pediatr Gastroenterol Nutr 40: 90-93.