Brain glycosaminoglycans and glycosaminoglycan sulphotransferase in Sanfilippo syndrome

Abstract

Analysis of various glycosaminoglycans in brain obtained from two patients with Sanfilippo syndrome indicates that the major glycosaminoglycan accumulated in brain was heparan sulphate. Dermatan sulphate was also increased in one case as compared to normal, whereas only heparan sulphate was present in the other. Chondroitin-4-sulphate sulphotransferase was completely absent in the brain whereas sulphotransferase activity towards dermatan sulphate and heparan sulphate was within the normal range only. The relative transfer of sulphate to the amino group as to that of the hydroxy group of heparan sulphate by the sulphotransferase was twice that of the normal indicating that N-sulphation is more predominant than O-sulphation in Sanfilippo syndrome.