Disease_ID | Disorder | Category | ENZYME LEVEL IN PATIENT (nm/h/mg protein) | Mannose-6-Phosphate | Gene | Location |
---|---|---|---|---|---|---|
D_1037 | MPS I – Hurler, Hurler Scheie and Scheie | Mucopolysacchridosis | 2.1-12 | yes | IDUA | cat enz |
D_1038 | MPS II – Hunter | Mucopolysacchridosis | 0.0-9.3 | yes | IDS | cat enz |
D_1039 | Sanfilippo syndrome Type D / MPS IIID | Mucopolysacchridosis | nr | yes | GNS | cat enz |
D_1040 | Sanfilippo syndrome Type B / MPS IIIB | Mucopolysacchridosis | 0.6-4.7 | yes | NAGLU | cat enz |
D_1041 | Sanfilippo syndrome Type C / MPS IIIC | Mucopolysacchridosis | nr | na | HGSNAT | cat enz |
D_1042 | Sanfilippo Type A / MPS IIIA | Mucopolysacchridosis | 0.01-0.24 | yes | SGSH | cat enz |
D_1043 | MPS IVA – Morquio | Mucopolysacchridosis | 4.0-5.2 | yes | GALNS | cat enz |
D_1044 | MPS VI – Maroteaux-Lamy | Mucopolysacchridosis | 0.0-0.25 | yes | GLB1 | cat enz |
D_1045 | MPS VII – Sly | Mucopolysacchridosis | 0.0-27.8 | yes | GUSB | cat enz |
D_1046 | MPS IX – Natowicz | Mucopolysacchridosis | nr | yes | HYAL1 | cat enz |