Neurocognitive outcome in patients with hypertyrosinemia type i after long-term treatment with NTBC

Journal of Inherited Metabolic Disease

Volumn 35, Issue 2, 2012, Pages 263-268

  Thimm, Eva ^a   Richter Werkle, Renate ^a   Kamp, Gudrun ^a   Molke, Bettina ^a   Herebian, Diran ^a   Klee, Dirk ^a   Mayatepek, Ertan ^a   Spiekerkoetter, Ute ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

NITISINONE; TYROSINE;

ARTICLE; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; COGNITIVE DEVELOPMENT; DRUG BLOOD LEVEL; EARLY INTERVENTION; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KAUFMANN ASSESSMENT BATTERY FOR CHILDREN; LANGUAGE DEVELOPMENT; LANGUAGE DISABILITY; LONG TERM CARE; MALE; MOTOR PERFORMANCE; MOVEMENT ASSESSMENT BATTERY FOR CHILDREN; NEUROLOGIC EXAMINATION; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PATIENT COMPLIANCE; POLYNEUROPATHY; PRESCHOOL CHILD; PROTEIN RESTRICTION; PSYCHOMETRY; RESPIRATORY FAILURE; SCHOOL CHILD; SIDE EFFECT; SNIJDERS OOMEN TEST; SPEECH ANALYSIS; TREATMENT DURATION; TYROSINEMIA; TYROSINEMIA TYPE I;

CEREBRUM; CHILD; CHILD, PRESCHOOL; COGNITION; COGNITION DISORDERS; CYCLOHEXANONES; ENZYME INHIBITORS; FEMALE; HUMANS; INFANT; LANGUAGE DEVELOPMENT; LONG-TERM CARE; MALE; MOTOR ACTIVITY; NITROBENZOATES; PSYCHOMETRICS; TIME; TREATMENT OUTCOME; TYROSINE; TYROSINEMIAS;

EID: 84863463607     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9394-5     Document Type: Article

References (24)

1. Al-Dhalimy M, Overturf K, Finegold M, Grompe M (2002) Long-term therapy with NTBC and tyrosine-restricted diet in a murine model ofhereditary tyrosinemia type I. Mol Genet Metab 75:38-45
2. Anonymous (2007) Nitisinone: new drug. Type 1 tyrosinemia: an effective drug. Prescrire Int 16:56-58
3. Bayley N (2006) Bayley scales of infant and toddler development, 3rd edn. Psychological Corporation, San Antonio
4. Ellaway CJ, Holme E, Standing S et al (2001) Outcome of tyrosinaemia type III. J Inherit Metab Dis 24:824-832
5. Hall MG, Wilks MF, Provan WM, Eksborg S, Lumholtz B (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
6. Henderson S, Sugden DA (2007) Movement assessment battery for children 2. Psychological Corporation, San Antonio
7. Herebian D, Spiekerkötter U, Lamshöft M, Thimm E, Laryea M, Mayatepek E (2009) Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma oftyro-sinemia type 1 patients. J Chromatogr B Analyt Technol Biomed Life Sci 877:1453-1459
8. Holme E, Lindstedt S (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 21:507-517
9. Holme E, Lindstedt S (2000) Nontransplant treatment of tyrosinemia. Clin Liver Dis 4:805-814
10. Hunziker N (1980) Richner-Hanhart syndrome and tyrosinemia type II. Dermatologica 160:180-189
11. Kaufman AS, Kaufman NL (1983) Kaufman assessment battery for children. Interpretive Manual. Circle Pines, MN: American Guidance Service
12. Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340:813-817
13. Macsai MS, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D (2001) Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Ophthalmol 132:522-527
14. Masurel-Paulet A, Poggi-Bach J, Rolland MO et al (2008) NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis 31:81-87
15. Melchers P, Preuss U (1991) Kaufman Assessment Battery for Children: K-ABC: Interpretationshandbuch. Swets and Zeitlinger, Frankfurt
16. Mitchell GA, Grompe M, Lambert M, Tanguay RM (2001) Hyper- tyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D et al (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 1777-1805
17. Petermann F (2008) Movement assessment battery for children-2 (Movement ABC-2). Pearson PLC, Frankfurt
18. Sener RN (2005a) Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain. J Comput Assist Tomogr 29:323-325
19. Sener RN (2005b) Brain magnetic resonance imaging in tyrosinemia. Acta Radio 46:618-620
20. Sgaravatti AM, Vargas BA, Zandoná K et al (2008) Tyrosine promotes oxidative stress in cerebral cortex of young rats. Int J Dev Neurosci 26:551-559
21. Snijders JT, Snijders-Oomen N (1977) Snijders-Oomen nicht- verbale Intelligenztestreihe S.O.N. 2.5-7. Groningen: Wolters- Noordhoff
22. Tellegen PJ, Laros JA, Petermann F (2007) Snijders-Oomen Non- verbaler Intelligenztest von 2 1/2 bis 7 Jahren (SON-R 2 1/2 - 7). Handanweisung und deutsche Normen, 2nd edn. Hogrefe, Göttingen
23. Thimm E, Herebian D, Assmann B, Klee D, Mayatepek E, Spiekerkoetter U (2011) Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. Mol Genet Metab 102:122-125
24. van Spronsen FJ, Smit GP, Wijburg FA, Thomasse Y, Visser G, Heymans HS (1995) Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation. J Inherit Metab Dis 18:111-114