Mucopolysaccharidosis
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders, in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). In individuals with MPS disorders, abnormal accumulation of certain complex carbohydrates causes progressive damage to cells, tissues, and various organ systems of the body. Inherited as autosomal recessive traits (with one exception; type II is X-linked), the different MPS subtypes and their associated genes include those in the following table.
| MPS Type | Name(s) | Gene | MOI |
|---|---|---|---|
| 1 H/S | Hurler/Scheie syndrome | IDUA | recessive |
| I H | Hurler disease | IDUA | recessive |
| II | Hunter syndrome | IDS | X-linked recessive |
| III A | Sanfillipo syndrome A | SGSH | recessive |
| III B | Sanfillipo syndrome B | NAGLU | recessive |
| III C | Sanfillipo syndrome C | HGSNAT | recessive |
| III D | Sanfillipo syndrome | GNS | recessive |
| I S | Scheie syndrome | IDUA | recessive |
| IV A | Morquio syndrome A | GALNS | recessive |
| IV B | Morquio syndrome B | GLB1 | recessive |
| IX | hyaluronidase deficiency | HYAL1 | recessive |
| VII | Sly syndrome | GUSB | recessive |
| VI | Maroteaux-Lamy syndrome | ARSB | recessive |
