Lysosomal Storage Disease
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This article is still under construction. |
Description
Lysosomal storage diseases occur due to inherited deficiencies of various lysosomal enzymes and this may be due to abnormalities in their synthesis, processing or cellular trafficking. The normal function of lysosomes is to degrade molecules within the cell and, when these chemical reactions are truncated by the absence of a key enzyme, the substrates of the reaction accumulate within the organelle. Since there is some redundancy in the pathways by which proteins are degraded, deficiencies in proteases do not usually result in clinical disease. Deficiencies in the nuclease enzymes are also not usually compatible with survival.
There are a large number of different lysosomal storage diseases in dogs and cats categorised according to the product which accumulates within cells. All of the storage disease are rare.
Classification
| Class | Defective Enzyme | Name of Disease |
| Sphingolipidosis | beta D gangliosidase beta D hexosaminidase |
GM1 Gangliosidosis GM2 Gangliosidosis |
| Oligosaccharidosis | ||
| Mucopolysaccharidosis | ||
| Glycoproteinosis | ||
| Proteosis |