Hepatic imaging with computed tomography of chronic tyrosinaemia type 1

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Abstract
Tyrosinaemia type 1 (fumaryl acetoacetase deficiency, hepato-renal tyrosinaemia) is a rare inborn error of metabolism which, in its chronic form, leads to cirrhosis in early childhood and subsequent development of hepatocellular carcinoma in a high proportion of cases. Imaging with compound tomography has an important role in assessing the progress of the liver disease and may be helpful in timing liver transplantation. The radiological feature of seven cases are described and the implications discussed.