Tyrosinemia



Tyrosinemia


Grace E. Kim, MD









This micronodular cirrhotic liver demonstrates patchy areas of large droplet fatty change in some nodules.






A dysplastic nodule image displays both small cell change and widened plate architecture. Note the adjacent normal liver image. (Courtesy M. J. Finegold, MD.)


TERMINOLOGY


Abbreviations



  • Fumarylacetoacetate hydroxylase (FAH) deficiency


Synonyms



  • Tyrosinemia, type I


  • Hereditary tyrosinemia


  • Hepatorenal tyrosinemia


Definitions



  • Inborn error of metabolism



    • Autosomal recessive inheritance


    • Tyrosine catabolism pathway



      • Deficiency of fumarylacetoacetate hydroxylase


      • Results in cirrhosis and hepatocellular carcinoma early in life

Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Tyrosinemia
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