LAUSR

HT1 is a severe autosomal recessive disorder due to the deficiency of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine. Before the era of treatment with 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), even with newborn screening and optimal diet therapy, HT1 patients often developed liver failure. Death was common in patients who did not undergo liver transplantation. For the last two decades, NTBC has revolutionized the management of HT1 patients. In screened newborns treated within the first month of life, we have not observed hepatocarcinoma. If patients are not detected at birth by neonatal screening, the diagnosis and treatment must be performed on an emergency basis, and patients are at risk for complications. Long term adhesion to treatment and reliable early detection of hepatocellular carcinoma (HCC) are two important challenges. In this chapter, we describe the clinical, biological, histo-pathological and imaging findings of HT1 in Québec before the era of NTBC. We also describe the hepatic status of nontransplanted tyrosinemic patients in Quebec and current management practices in the Quebec NTBC Study.