H Alobaidy, M. Kreasta, K. Elhoni, N. Ghashir
JMJ Vol.3 No.1 (March) 2004: 37-41
Aims: To review the clinical presentation and the efficacy of a new drug as NTBC (2-(nitro-4-trifluorometbylbenzoyl)-1-3-cyclohexanedione) in Libyan children with acute and sub acute form of Tyrosinaemia type 1. Method: The study was done at Alkhadra Hospital during the period (2/1999 – 6/2003). The diagnosis was suspected clinically and confirmed by measuring urinary succinylacetoaceton and the other biochemical profile of tyrosinaemia. Two patients were treated by using NTBC, which is only available for compassionate use and phenylalanine / tyrosine restricted diet; the 3rd patient was treated by diet restriction only. The response to these therapeutic approaches was evaluated clinically and biochemically. Results: The patients with primary presentation manifested during infancy by abdominal distention, hepatomegaly with or without rickets showed remarkable clinical and biochemical improvement in patients subjected to combined therapeutic approach and were superior to the results of the patient who was treated by restricted diet only. Conclusion: In limited number of patients worldwide the NTBC has been used with encouraged results. In Libyan children who present with abdominal distention, hepatomegaly with or without rickets and other non-specific presentation, it is worth suspecting tyrosinaemia type 1 clinically and confirm it biochemically, then to treat by using NTBC and diet restriction regime.
Keywords: Tyrosinaemia, Tubulopathy, Succinylacetoacetone, NTBC