Background: Tyrosinemia type I is associated with an increased risk of liver cancer development. The formation of the pathogenic fumarylacetoacetate is prevented by 2-(2-nitro-4-3 trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC). Still, some patients with NTBC treatment develop liver cancer. A rise of α-fetoprotein (AFP) is an indicator of liver cancer. Aim: To study the predictive value of AFP in tyrosinemia type I patients for the discrimination between patients at high and low risk of liver cancer development. Methods: We examined the course of AFP values of 11 Dutch patients with tyrosinemia type I treated by NTBC, of whom four were diagnosed with liver cancer. Results: The four patients with liver cancer had a course of AFP different from the other patients in either velocity of the decrease of AFP, achieving normal AFP and/or having a rise of AFP concentrations. Conclusion: Apart from a rise of AFP, a slow AFP decrease, and never normalizing levels of AFP are important predictors of liver cancer development in further life.

, , , , , ,,
Molecular Genetics and Metabolism
Department of Pediatrics

Koelink, P.J, van Hasselt, P.M, van der Ploeg, A.T, van den Heuvel-Eibrink, M.M, Wijburg, F.A, Bijleveld, C.M.A, & van Spronsen, F.J. (2006). Tyrosinemia type I treated by NTBC: How does AFP predict liver cancer?. Molecular Genetics and Metabolism, 89(4), 310–315. doi:10.1016/j.ymgme.2006.07.009