FAH and Cirrhosis: HTI is caused by a G>A point mutation in the fumarylacetoacetate hydrolase (FAH) gene, which causes skipping of exon 8, leading to a dysfunctional protein and accumulation of the toxic metabolite fumarylacetoacetate in hepatocytes, ultimately leading to cirrhosis, acute liver failure, and increased risk of hepatocellular carcinoma (Yin et al., 2014; King et al., 2017).