Background : Hereditary tyrosinemia type 1 (HT1) is an increasingly recognized inborn error of metabolism among Egyptian children. Aim : To define the presenting clinical, biochemical and imaging features, the outcome of 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. HT1 was diagnosed by quantification of succinylacetone (SA) in dry blood spots. Results : Twenty-two cases were diagnosed with HT1 over a period of 3 years from August 2006 to July 2009. Infants presenting with focal hepatic lesions and hepatomegaly (n=13) were significantly younger at diagnosis than those presenting with rickets (n=5) (median age 3 vs. 10 months; p= 0.05). Alpha fetoprotein was highly elevated in all cases. Seven children died within few weeks of diagnosis before therapy was initiated. Ten patients were treated with NTBC. The response to NTBC treatment was apparent by a steep drop in serum AFP and undetectable SA in urine within 2 months. Three children underwent living donor liver transplantation after treatment with NTBC for 10, 18 and 22 months, respectively. Despite adequate response to therapy there is limitation in use of NTBC because of financial issues. The explanted livers were all cirrhotic with no dysplasia or malignant transformation. In conclusion : Focal hepatic lesions are the commonest presentation of HT1 patients and they present at an earlier age than rickets. NTBC is effective but very expensive. Liver transplantation is still considered in HT1 patients.