Lysosomal Storage Disease

What is it?

Lysosomal Storage Diseases refers to a group of rare inherited metabolic disorders that result from defects in the function of lysosomes. Lysosomes are the "recycling centre" in cells, and are supposed to process unwanted or worn out material in a cell into a substance that the cell can use. The lysosomes use enzymes to do this processing, and if the enzyme exists in only small amounts or is absent altogether, the recycling process doesn't work, and the unprocessed material builds up, or is stored, in the cell. Eventually the stored material builds up so much that the cell cannot function any longer. When this happens in enough cells, disease symptoms appear.

What are the symptoms?

The symptoms of Lysosomal Storage Diseases vary, depending on what type of cell is malfunctioning and what material is being stored. Some have a relatively early age of onset, others may not appear until middle or old age, and symptoms range from fairly mild, to severe and deadly. Storage disease symptoms can include developmental delay, movement disorders, seizures, dementia, deafness, and blindness.

What can be done?

Lysosomal Storage Disease is a genetically inherited disorder. For a puppy to inherit the condition he must receive a positive gene from both parents. There is now a genetic test available to determine the status of a dog before breeding. The LRCGB are testing all breeding stock and insist that breeders must ensure that one parent is normal (i.e. not affected or carrying the LSD gene) when breeding a litter, meaning that no affected puppies will be produced.
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