Abstract
Background: Tyrosinemia type I is an autosomal recessive inborn error caused by fumary- lacetoacetase deficiency resulting in liver failure, hepatocellular carcinoma (HCC), renal tubular dysfunction and acute intermittent porphyria. Treatment with NTBC has shown good response in all symptoms, however HCC remains a concern. We present a case of tyrosinemia type I who developed HCC despite 6 years of NTBC treatment.
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