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Nitisinone, 2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione (NTBC) ORFADIN®
Tyrosinemia type 1
1mg/kg/day in 2 divided doses (140-142).
Capsules: 2 mg, 5 mg and 10 mg
PO
Hematologic: Leukopenia, thrombocytopenia
Hepatic: Liver failure, neoplasm of liver
Ophthalmic: conjunctivitis, corneal opacity, keratitis, photophobia
4
140. Morris AA, Richmond SW, Oddie SJ, Pourfarzam M, Worthington V, Leonard JV. N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate. J Inherit Metab Dis 1998;21(8):867-8
141. Plecko B, Erwa W, Wermuth B. Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate. Eur J Pediatr 1998;157(12):996-8
142. Fernandez de Miguel S, Gimeno Diaz de Atauri A, Torres Peral R, Fernandez Carrion F, Serrano Ayestaran O. [N-carbamyl glutamate treatment in hyperammoniemia decompensated propionic acidaemia]. An Pediatr (Barc) 2009;71(6):579-80 doi: S1695-4033(09)00481-0 [pii] 10.1016/j.anpedi.2009.08.007[published Online First: Epub Date]|.
