Nitisinone

Excerpt

The FDA first approved nitisinone in 2002 for managing and treating hereditary tyrosinemia type 1 (HT-1). HT-1 is an autosomal recessive disease caused by a deficiency in fumarylacetoacetate hydrolase (FAH), the last enzyme in the tyrosine degradation pathway. This activity reviews the indications, action, and contraindications for nitisinone as a valuable agent in treating HT-1 and its off-label use in managing alkaptonuria. This activity highlights the mechanism of action, adverse event profile, and other key factors (e.g., dosing, pharmacodynamics, monitoring) of nitisinone therapy, pertinent for members of the interprofessional healthcare team in managing hereditary tyrosinemia type 1 and related metabolic disorders.