Nitisinone

Nitisinone is a medicinal drug used primarily in the treatment of hereditary tyrosinemia type 1 (HT-1). It is a synthetic compound of the hydroxyphenylpyruvate dioxygenase inhibitor class.

History[edit | edit source]

Nitisinone was initially developed in the 1980s as a herbicide by the Swedish company Kabi Pharmacia. However, its potential therapeutic use was discovered when it was found to be effective in treating hereditary tyrosinemia type 1 in experimental models.

Medical Uses[edit | edit source]

Nitisinone is used in the treatment of hereditary tyrosinemia type 1, a rare genetic disorder that can cause severe liver and kidney damage. It works by inhibiting the enzyme 4-hydroxyphenylpyruvate dioxygenase, thereby preventing the accumulation of toxic metabolites in the body.

Side Effects[edit | edit source]

Like all medications, Nitisinone can cause side effects. Common side effects include thrombocytopenia, leukopenia, granulocytopenia, conjunctivitis, corneal opacity, itching, exfoliative dermatitis, alopecia, and dry skin.

Pharmacology[edit | edit source]

Nitisinone inhibits the enzyme 4-hydroxyphenylpyruvate dioxygenase, which is involved in the catabolism of tyrosine. This inhibition prevents the formation of fumarylacetoacetate, a toxic metabolite that causes damage to the liver and kidneys in patients with hereditary tyrosinemia type 1.