Between 1963 and 1965, Swedish pediatrician Rolf Zetterström and colleagues at the Karolinska Institute in Sweden published the first detailed clinical account of hepatorenal tyrosinemia and its variants. Shortly thereafter, a Canadian group also described the clinical and laboratory findings of hepatorenal tyrosinemia. Both the Scandinavian and Canadian groups suggested that the Japanese patients described earlier by Sakai and colleagues had the same disorder, ie, hepatorenal tyrosinemia. In 1965, doubts emerged that the underlying biochemical cause of hepatorenal tyrosinemia was a defective form of the 4-hydroxyphenylpyruvate dioxygenase enzyme. In 1977, Bengt Lindblad and colleagues at the University of Gothenburg in Sweden demonstrated that the actual defect in causing hepatorenal tyrosinemia involved the fumarylacetoacetate hydrolase enzyme. This was subsequently confirmed using direct enzyme assays. Research directions
As of April 2020, two new clinical trials, are underway in the USA for a Mass Spectrometry-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood plasma. References
External links
Reference, Genetics Home. "Tyrosinemia". Genetics Home Reference. Retrieved 2020-05-01. "Tyrosinemia Type 1". NORD (National Organization for Rare Disorders). Retrieved 2020-05-01.
Acetohydroxamic acid (also known as AHA or by the trade name Lithostat) is a drug that is a potent and irreversible enzyme inhibitor of the urease enzyme in various bacteria and plants; it is usually used for urinary tract infections. The molecule is similar to urea but is not hydrolyzable by urease; it thus disrupts the bacterias metabolism through competitive inhibition. Orphan drug
In 1983 the US Food and Drug Administration approved acetohydroxamic acid (AHA) as an orphan drug for "prevention of so-called struvite stones" under the newly enacted Orphan Drug Act of 1983. AHA cannot be patented because it is a standard chemical compound. See also
Salicylhydroxamic acid


== References ==