Nitisinone

First approved by the FDA in 2002, nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1), an autosomal recessive disorder caused by a deficiency in fumarylacetoacetate hydrolase (FAH). This condition involves the accumulation of toxic intermediates in the tyrosine degradation pathway, resulting in severe liver and kidney damage. Nitisinone inhibits 4-hydroxyphenylpyruvate dioxygenase, effectively reducing the buildup of these harmful metabolites and preventing further organ damage. Monitoring succinylacetone levels in the blood is crucial for assessing treatment efficacy in patients with HT-1.