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Nitisinone, sold under the brand name Orfadin among others, is a medication used for the treatment of hereditary tyrosinemia type 1; or for the reduction of urine homogentisic acid in adults with alkaptonuria. Nitisinone is a hydroxyphenyl-pyruvate dioxygenase inhibitor.
It is available as a generic medication.
Nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1) Alkaptonuria (AKU) in patients from all ages, in combination with dietary restriction of tyrosine and phenylalanine.
Since its first use for this indication in 1991, (2025). 9783319557809, Springer International Publishing. ISBN 9783319557809 it has replaced liver transplantation as the first-line treatment for this condition.
It has been shown that nitisinone is toxic to kissing bugs, tsetse, ticks and mosquitoes.. The substance may be in the host's bloodstream, or spread on surfaces, as it is absorbed through the mosquito's skin.
Alkaptonuria is caused when an enzyme called homogentisic dioxygenase (HGD) is faulty, leading to a buildup of homogentisate (HGA). Alkaptonuria patients treated with nitisinone produce far less HGA than those not treated (95% less in the urine), because nitisinone inhibits HPPD, resulting in less homogenisate accumulation. Clinical trials are ongoing to test whether nitisinone can prevent ochronosis experienced by older alkaptonuria patients
In type I tyrosinemia, a different enzyme involved in the breakdown of tyrosine, fumarylacetoacetate hydrolase is either absent or mutated and doesn't work, leading to very harmful products building up in the body. Fumarylacetoacetate hydrolase acts on tyrosine after HPPD does, so scientists working on making herbicides in the class of HPPD inhibitors, hypothesized that inhibiting HPPD and controlling tyrosine in the diet could treat this disease. A series of small clinical trials attempted with one of their compounds, nitisinone, were conducted and were successful, leading to nitisinone being brought to market as an orphan drug by Swedish Orphan International, which was later acquired in 2016 by Swedish Orphan Biovitrum (Sobi).
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