Tyrosinaemia Type I: Orthotopic Liver Transplantation as the Only Definitive Answer to a Metabolic as well as an Oncological Problem

Hereditary tyrosinaemia type I (McKusick 27670) is an autosomal recessive disorder, primarily caused by a deficiency of the enzyme fumarylacetoacetase (EC 3.7.1.2.) (Fallstrom et al., 1979; Berger et al., 1981), characterized by elevated concentrations of tyrosine, phenylalanine, methionine and α-1-fetoprotein (AFP) in plasma and increased urinary excretion of tyrosyl compounds, succinylacetone and δ-amino-levulinic acid. Its clinical picture consists of an acute and more chronic forms, all causing hepatocellular and renal tubular dysfunction. Dietary treatment has repeatedly been shown to decrease the renal tubular damage, but does not always prevent liver damage. Of patients with the acute form, 90% die before the age of 1 year (Mowat, 1987). In the chronic form, hepatocellular carcinoma (HCC) is known as a cause of death in about 35% of the patients (Weinberg et al., 1976). However, there are no data about the risk for HCC in the acute form. In both forms, orthotopic liver transplantation (OLT) should be considered as the only definitive therapy so far.