Number of lysosomal storage diseases (LSDs) that have been recognized
| Range | ~60 LSDs |
|---|---|
| Organism | Unspecified |
| Reference | Settembre C, Fraldi A, Medina DL, Ballabio A. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol. 2013 May14(5):283-96. doi: 10.1038/nrm3565 p.291 box 3PubMed ID23609508 |
| Comments | P.291 box 3: "LSDs are a group of rare and recessively inherited metabolic dysfunctions with an overall incidence of 1 in 5000. LSDs are caused by mutations of genes encoding proteins that localize to the lysosomal lumen, lysosomal membrane or other cellular compartments that contribute to lysosomal function. These disorders are characterized by the progressive accumulation of material that has not been degraded in the lysosomes of most cells and tissues. Approximately 60 different types of LSDs have been recognized." |
| Entered by | Uri M |
| ID | 117085 |