天美传媒

Abstract

Tyrosinemia type I is a rare autosomal recessive disorder characterized by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), leading to the accumulation of toxic metabolites such as succinylacetone and tyrosine. Without proper management, tyrosinemia type I can result in severe liver dysfunction, renal impairment, and neurological complications. Hematin, a heme derivative, has emerged as a potential therapeutic agent for tyrosinemia type I due to its ability to inhibit hepatic delta-aminolevulinic acid synthase, thereby reducing the synthesis of toxic tyrosine metabolites. This review provides a comprehensive overview of the utilization of hematin in the management of tyrosinemia type I, including its mechanism of action, pharmacokinetics, clinical efficacy, and safety profile. Additionally, the challenges and future directions in the use of hematin as a therapeutic intervention for tyrosinemia type I are discussed. Overall, hematin shows promise as an adjunctive therapy in the management of tyrosinemia type I, offering potential benefits in reducing disease burden and improving long-term outcomes for affected individuals.