Tyrosinemia is a disease of the tyrosine metabolism, affecting mainly liver, kidney and peripheral nerves. Two forms of liver disease caused by a deficiency of FAH are recognised: (1) acute liver failure; (2) chronic liver disease. Since the introduction of NTBC [2-(2-nitro-4-trifluoromethyl benzoyl)-1-3-cyclohexanedione] (nitisinoneR) in the treatment of tyrosinemia, no liver disease has been observed when started in the first weeks of life. Liver transplantation is a good option for the treatment of tyrosinemic patients developing liver nodules, with high suspicion of hepatocarcinoma. In the long-term outcome of the liver transplant, survival was of 90% in tyrosinemic patients.
Keywords: Acute failure; Chronic liver disease; Hepatocarcinoma; Kidney disease; Liver transplantation; Neurologic crisis; Tyrosinemia.