Tirozinemi, tirozin aminoasidi metabolizmasindaki herediter bozukluktur. Herediter tirozineminin çesitli klinik formlari olmakla birlikte En sık tip 1 herediter tirozinemi diğer adiyla hepatorenal tirozinemi görülür. Bu durum tirozin aminoasidinin yikimindan sorumlu fumaril asetoasetat hidrolaz enzim defektinden kaynaklanir. Temel olarak etkilenen organlar karaciger, böbrek ve sinir sistemidir. Özellikle progresif karaciger yetmezligi ve siroz ile karakterize olup bu zeminde artmis karaciger kanser riski tasirlar. Hastaların çogu çocukluk çaginda belirlenmis olsa da, bu olgu sunumunda onyedi yaşi nda hepatosellüler karsinom ile tanı alan bir olgu sunulmustur.
Tyrosinemia is an inborn metabolic disorder of the amino acid, tyrosine. There are several types of tyrosinemia, the most common of which is type 1, also recognized as hereditary tyrosinemia or hepatorenal tyrosinemia. It is caused by a deficiency of fumarylacetoacetate hydrolase (FAH), a liver enzyme which breaks down tyrosine, affecting major organs such as liver, kidney and peripheral nerves. This condition is especially characterized by progressive liver failure and cirrhosis, which carries a high risk of liver cancer development. Although most patients are diagnosed in childhood, a 17-year- old female patient with hepatocellular carcinoma is presented in this case report.