Tabriz University of Medical Sciences Medical Journal of Tabriz University of Medical Sciences 2783-2031 27 1 2005 05 22 A case Report of Hereditary Tyrosinemia Type 1 73 76 EN ASGHARI KALEIBAR N RAFEEY M JAFARI ROUHI A.H Journal Article 2013 07 09 Thyrosinemia type 1 is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetate activity. Treatment with 2-(2-nitr-4-trifluro-methylbenzoyl)-1,3-cyclohexanedion (NTBC) an inhibitor of 4-hydroxyphenylpyruvate dioxygenase, has successfully been applied for the last few years. In this paper one patient with the diagnosis of tyrosinemia type1 has been treated with NTBC and restricted diet. Within five years follow up, patient’s signs and symptoms alleviated and no evidence of hepatocellular carcinoma developed and the patient’s growth and development were normal. This drug was as effective as showed in similar studies. The needed amount of NTBC for this patient to live normally is provided through a Franch company with difficulties. The patient’s life depends on continuous availablity of this drug.