Lysosomal Storage Disease

What is Lysosomal Storage Disease? 
Lysosomal storage diseases are a group of inherited metabolic disorders in which the body has a partial or complete lack of an enzyme that normally breaks down sugars, proteins, or fats. When this happens, the products that should have been broken down instead accumulate in the body's cells. Depending on the particular enzyme that is lacking, the diseases will have different effects. Some examples of lysosomal storage diseases in dogs are ceroid lipofuscinosis, fucosidosis, glycogen storage disease, mucopolysaccharidosis, and GM1 and GM2 gangliosidosis.

How does my dog get Lysosomal Storage Disease? 
The cause is usually genetic, inherited as a recessive. Carriers can be partially affected.

How do I know if my dog has Lysosomal Storage Disease?  
Affected dogs are usually normal at birth, but as the cells accumulate abnormal products they may fail to thrive or begin to show signs. The exact signs depend on the particular disease, but often include neurological signs such as abnormal behavior, incoordination, and seizures. Your veterinarian will perform blood and urine tests, which will often indicate the presence of a disorder. Radiographs may also be helpful to detect diseases that have bone involvement. DNA testing is available for several of these diseases.

What can I do about Lysosomal Storage Disease? 
Treatment depends on the type of disease, but begins with safeguarding your dog from injury that may result from coordination problems. Bone marrow transplants, gene therapy, and enzyme replacement therapy are still in the experimental stage but show promise.  At present, however, the conditions will continue to worsen and are ultimately fatal.

Is there anything I can do to prevent my dog from getting Lysosomal Storage Disease?  
Avoid breeding affected dogs or carriers. Check to see if there is a DNA test available for your breed.

Are there certain breeds that get Lysosomal Storage Disease more often? 
Different breeds are affected by different types of storage disorders. The breeds that are more likely affected include Australian Cattle Dog, Border Collie, Chihuahua, Cocker Spaniel, Dalmatian, Dachshund, English Setter, Tibetan Terrier, English Springer Spaniel, Akita, German Shepherd, Miniature Pinscher, Portuguese Water Dog, and German Shorthaired Pointer.