iduronate-2-sulfatase

Iduronate-2-sulfatase is an enzyme crucial for the catabolism of glycosaminoglycans (GAGs) within cells. Its deficiency leads to Mucopolysaccharidosis II (MPS II), also known as Hunter Syndrome, an X-linked recessive lysosomal storage disease characterized by the accumulation of GAGs, resulting in cellular engorgement, organomegaly, tissue destruction, and organ system dysfunction. Therapeutic approaches involve enzyme replacement therapy (ERT) with recombinant iduronate-2-sulfatase, such as idursulfase, to provide the missing enzyme. Additionally, gene therapies are being developed to deliver a functional copy of the iduronate-2-sulfatase gene (IDS) to cells, particularly targeting the central nervous system to address neurological manifestations not typically reached by intravenous ERT. Modified versions of the enzyme, engineered for enhanced blood-brain barrier penetration, are also under investigation.

Brand names

ELAPRASEHunterase

Other names

idursulfase