Sulphamidase.

Sulphamidase is one of four lysosomal proteins whose deficiency clinically manifests as Sanfilippo syndrome. Deficiency of sulphamidase results in the lysosomal storage of the glycosaminoglycan (GAG) heparan sulphate (HS) and is termed mucopolysaccharidosis type IIIA (MPS IIIA). Sulphamidase catalyses the hydrolysis of an N-linked sulphate from the nonreducing terminal glucosaminide residue of HS (Fig. 1). It is unique among the known lysosomal sulphatases involved in GAG degradation in that it is an N-sulphatase, all the others being O-sulphatases. Purification of sulphamidase from human liver has facilitated the amino-terminal sequencing of the protein and hence the isolation of cDNA and genomic clones for sulphamidase. This has in turn made possible a range of further studies aimed at better diagnosis, treatment and understanding of MPS IIIA.