Trudności w rozpoznaniu tyrozynemii typu 1 z perspektywy onkologa - opis przypadku

The presented case reminds how important is to take into consideration inborn errors of metabolism in differential diagnosis of hepatomegaly. One must remember that tumor markers such as AFP and CEA have only additional role in diagnostic process. Final diagnosis cannot be made only based on them. We hope, that thanks to the newborn metabolic screening started in Wielkopolska Region in October 2012, and in whole Poland in November 2013, this case will be the last case of late recognized tyrosinemia type 1.