Table 1 Classification and underlying enzyme deficiencies of Sanfilippo syndrome subtypes [39,40,41,42]
From: Sanfilippo syndrome: consensus guidelines for clinical care
Disease subtype | Affected gene | Deficient enzyme | OMIM number |
|---|---|---|---|
MPS IIIA | SGSH | Heparan-N-sulfatase | 252900 |
MPS IIIB | NAGLU | N-acetyl-α-glucosaminidase | 252920 |
MPS IIIC | HGSNAT | α-glucosaminidase N-acetyltransferase | 252930 |
MPS IIID | GNS | N-acetylglucosamine 6-sulfatase | 252940 |