Characterization of Glycosaminoglycans Stored in Mucopolysaccharidosis III A: Evidence for a Generally Occuring Degradation of Heparan Sulfate by Endoglycosidases

Publisher Website
Google Scholar
Abstract
The characterization of intracellularly stored glycosaminoglycans from organs of a patient suffering from mucopolysaccharidosis III A (Sanfilippo A disease) is described. Heparan sulfate and galactosamine-containing glycosaminoglycans (chondroitin sulfate, dermatan sulfate) are accumulated in the liver, whereas in the other organs (spleen, kidney, heart, cerebrum, cerebellum) heparan sulfate is almost the only glycosaminoglycan stored. It is shown by [3H]NaBH4 reduction and subsequent identification of the 3H-labeled sugar alcohols that heparan sulfate is degraded in all organs by at least 2 endoglycosidases, an endoglucuronidase and an endoglucosaminidase, to fragments of low MW (.apprx. 2000-6600).