Idursulfase

Description

Mucopolysaccharidosis II, also known as Hunter Syndrome, is a lysosomal storage disorder characterized by a deficiency in iduronate-2-sulfatase, an enzyme responsible for the hydrolysis of the terminal 2-sulfate esters from the glycosaminoglycans dermatan sulfate and heparin sulfate in the lysosomes of various cells. This enzyme deficiency causes an accumulation of glycosaminoglycans (GAGs) in tissue. The clinical manifestations of this deficiency are short stature, joint stiffness, harsh facial features, hepatosplenomegaly, and progressive mental retardation. As with other lysosomal storage disorders, the patient’s only recourse is enzyme replacement therapy (ERT). Idursulfase is a recombinant human enzyme that has been developed and launched as the ERT for Hunter syndrome. Unlike most recombinant enzymes, it cannot be produced in prokaryotic cells. For proper post-translational attachment of N-linked oligosaccharides and the crucial mannose-6-phosphate groups as the targeting passport into lysosomes, idursulfase is produced from HT-1080 cells. In addition to being fully glycosylated with eight mannose-6-phosphate groups, the enzyme possesses sialylated moieties that improve its stability in circulation.

Originator

Shire Transkaryotic therapies (UK)

Uses

Treatment of Hunter Syndrome (enzyme that degrades the glycosaminoglycans heparan sulfate and dermatan sulfate).

brand name

Elaprase

Raw materials

Preparation Products