Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency), can cause severe hepatic, renal and peripheral nerve damage. The clinical course of 78 patients was studied in Quebec. Of note, in Quebec HT1 is more frequent and is part of the neonatal screening program. Nitisinone (NTBC) inhibits tyrosine degradation prior to the formation of toxic metabolites like succinylacetone and has been offered to HT1 patients in QuÃ©bec since 1994. When comparing the treated versus untreated group of patients in this cohort, they were found to be statistically different in terms of hospitalizations for acute complications of HT1, liver transplantation, and deaths.
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in QuÃ©bec. Larochelle et al. Mol Genet Metab. 2012 Sep;107(1-2):49-54.Â Â PMID:22885033
Yannis Trakadis, MD