Mucopolysaccharidosis eMedicine Orthopedics

Description: Mucopolysaccharides consist of glycosaminoglycans attached to a link protein with a hyaluronic acid core. Lysosomal enzymes degrade these macromolecules into smaller components. Heparan sulfate, dermatan sulfate, and keratan sulfate are by-products of an incomplete degradation process. The accumulation of these compounds interferes with cell function. Different forms of the disease were described separately throughout the 20th century. Their clinical presentations are varied depending on the type of enzyme defect and glycoprotein accumulated.
Synonyms and related keywords: MPS, inherited metabolic disorders, lysosomal enzyme deficiency, lysosomal storage disease, Hurler syndrome, MPS IH, Hurler-Scheie syndrome, MPS I-H/S, Scheie syndrome, MPS IS, Hunter syndrome, MPS II, Sanfilippo syndrome, MPS III, Morquio syndrome, MP IV, Maroteaux-Lamy syndrome, MPS VI, Sly syndrome, MPS VII
Bittar & Washington 2008