Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC) / Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)

Background: Tyrosinemia type I is an inborn error of metabolism due to deficiency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation is with visceromegaly and subclinical rickets. The most severe complications are hepatic cancer and acute neurological crises. Without treatment, tyrosinemia type 1 is fatal. In 1992 treatment for tyrosinemia type 1 with 2-(2-nitro-4-trifluoromethybenzoyl)-1,3-ciclohexanedione (NTBC) was proposed. A clinical response was reported in 90% of patients. In cases that did not respond, a successful liver transplantation was performed, reducing mortality to 5%. Aim: To report the follow up of 12 patients treated with NTBC. Patients and Methods: Review of clinical records of 12 Chilean cases treated with NTBC at the Instituto de Nutrición y Tecnología de los Alimentos (INTA) from January 2004 until June 2010. Results: In all patients, a rapid metabolic control was achieved. Two patients developed hepatocarcinoma. One of these patients died and one was successfully treated with liver transplantation. One patient died after receiving a liver transplantation. Nine patients have at present good liver function, but 2 had peripheral neuropathy due to late diagnosis and discontinuing NTBC treatment. Conclusions: Treatment with NTBC allows metabolic normalization in tyrosinemia type 1, prevents liver cirrhosis and hepatic cancer, improving survival rates and quality of life in the patients. Neonatal screening is essential for the early diagnosis of this treatable disease, that otherwise may be lethal.

Tyrosinemia type 1 in children: clinical and biochemical analysis with new advance in management

To review the clinical presentation and the efficacy of a new drug as NTBC [2-[nitro-4-trifluoromethylbenzoyl]-l -3-cyclohexanedione] in Libyan children with acute and sub acute form of Tyrosinemia type 1. 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 tyrosinemia. Two patients were treated by using NTBC, which is only available for compassionate use, and phenylalanine/tyrosin restricted diet, the 3rd patient was treated by diet restriction only.The response to this therapeutic approaches was evaluated clinically and biochemically. 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 was superior to the results of the patient who was treated by restricted diet only. In limited number of patients worldwide the NTBC has been used with encouraged In Libyan children who present with abdominal distension, hepatomegaly, with or without rickets and the other non specific presentation, it is worth suspecting Tyrosinemia type 1 clinically and confirm it biochemically, then to treat by using NTBC and diet restriction regime