TABLE 1.
Characteristics of MPS III subtypes
| OMIM | Enzyme | Gene | Proportion of MPS III patients (from Reference 2) | Geographic (from Reference 1) | Common variants | |
|---|---|---|---|---|---|---|
| MPS IIIA | #252900 | N‐sulfoglucosamine sulfohydrolase (sulfamidase, heparan sulfate sulfatase) | SGSH (605270) | 60% |
Northern/Eastern European. Cayman islands (from Reference 7) |
c.734G > A c.220C > T c.1139A > G c.197C > G (from Reference 1) |
| MPS IIIB | #252920 | N‐acetylglucosaminidase alpha | NAGLU (609701) | 30% | Southern European |
c.889C > T c.1000G > T (from Reference 1) |
| MPS IIIC | #252930 |
Heparan‐alpha‐glucosaminide N‐acetyltransferase |
HGSNAT (610453) | 4% | c.1030C > T (from Reference 10) | |
| MPS IIID | #252940 | N‐acetylglucosamine‐6‐sulfatase (glucosamine‐6‐sulfatase) | GNS (607664) | 6% | Italian, Turkish (from Reference 11) |
Abbreviation: MPS III, mucopolysaccharidosis type III.