Beta glucuronidase, recombinant
Name: Beta glucuronidase, recombinant
Dosing & Uses
Mucopolysaccharidosis VII
Pending FDA approval as a replacement for the deficient lysosomal enzyme beta-glucuronidase that causes mucopolysaccharidosis VII (MPS 7), also known as Sly Syndrome
Pharmacology
Mechanism of Action
Enzyme replacement of the lysosomal enzyme beta-glucuronidase
MPS 7 is a genetic metabolic disorder caused by a deficiency of beta-glucuronidase, which is required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs)
Accumulation of GAGs in various tissues causes coarsened facial features, enlargement of the liver and spleen, airway obstruction, lung disease, cardiovascular complications, joint stiffness, short stature, and skeletal disease; severe cellular and organ dysfunction of MPS 7 typically leads to death in the teens or early adulthood