SGSH and lysosomal storage disease: Mucopolysaccharidosis (MPS) IIIA, or Sanfilippo syndrome A, is a lysosomal storage disease that occurs due to loss-of-function mutations in the SGSH gene, whose product N-sulfoglucosamine sulfohydrolase (sulfamidase) is required for the degradation of the glycosaminoglycan (GAG) heparan sulfate (HS).