Most of the medical breakthroughs on tyrosinemia occurred during the 1970s, when researchers determined its effects on the liver and kidneys and conducted thorough biochemical analyses. More recently, scientists have been able to map the genes responsible for the disorder to specific chromosomes.
Nitisinone, a Swedish drug used to treat the high levels of tyrosine in the blood that accompany tyrosinemia, was invented in 1991. This prescription drug revolutionized treatment for the disorder, for which liver transplants had been the only temporary solutions.