Macvicar D, Dicks-Mireaux C, Leonard J V, Wight D G
Department of Radiology, Hospital for Sick Children, London.
Br J Radiol. 1990 Aug;63(752):605-8. doi: 10.1259/0007-1285-63-752-605.
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 computed tomography has an important role in assessing the progress of the liver disease and may be helpful in timing liver transplantation. The radiological features of seven cases are described and the implications discussed.
1型酪氨酸血症（富马酰乙酰乙酸酶缺乏症，肝肾型酪氨酸血症）是一种罕见的先天性代谢紊乱疾病，其慢性形式会导致幼儿期肝硬化，并且在很大比例的病例中随后会发展为肝细胞癌。计算机断层扫描成像在评估肝脏疾病进展方面具有重要作用，可能有助于确定肝移植时机。本文描述了7例病例的放射学特征并讨论了其意义。
