Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.

Background: Hereditary tyrosinemia type 1 (HT1) is an increasingly recognized inborn error of metabolism among Egyptian children. This study was undertaken to define the presenting clinical, biochemical and imaging features and outcome of 2-(2-motrp-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) therapy and liver transplantation in a cohort of Egyptian children diagnosed with HT1.

Methods: The study was carried out at the Pediatric Hepatology Unit at Cairo University Children's Hospital.