Hepatic imaging with computed tomography of chronic tyrosinaemia type 1.
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.
Department of Radiology, Hospital for Sick Children, London.
D
D
Macvicar
C
C
Dicks-Mireaux
J V
JV
Leonard
D G
DG
Wight
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000000981:diagnostic imaging*; D008107:Liver Diseases / Q000000981:diagnostic imaging* / Q000209:etiology; D016031:Liver Transplantation; D014057:Tomography, X-Ray Computed; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine