گزارش يك مورد تيزوزينمي ارثي نوع I

A case Report of Hereditary Tyrosinemia Type 1

Thyrosinemia type I 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, patientʹs signs and symptoms alleviated and no evidence of hepatocellular carcinoma developed and the patientʹs 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 patientʹs life depends on continuous availablity of this drug.