Hereditary tyrosinemia type 1 (HT1), the most severe inborn error
of the tyrosine degradation pathway, is due to a deficiency in
fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1
is one per 100,000 births, but some regions have a significantly
higher incidence (1:1,800). The FAH defect results in the
accumulation of toxic metabolites, mainly in the liver. If left
untreated, HT1 is usually fatal before the age of two. HT1 patients... more...