4MHX, 4MIV644827029ENSG00000181523ENSMUSG00000005043P51688n/aNM_000199NM_001352921NM_001352922NM_018822NP_000190NP_001339850NP_001339851n/aN-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.

[5][6] A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270).

The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.

The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease.

Type A has been reported[8] to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.