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What are lysosomal storage diseases?
In these disorders, there is a deficiency of a particular enzyme necessary for normal metabolic processes within the body. The result is an accumulation in cells ("storage") of whatever product the enzyme normally acts upon. Cells become swollen and incapable of normal function. Although these conditions can affect many different body systems, most often the clinical signs relate to abnormalities in the nervous system. Typically, animals with a storage disease are normal at birth, fail to grow as rapidly as littermates, and at a consistent age, develop progressive signs of a nervous disorder which will ultimately prove fatal.
These disorders are generally rare. Because of similar diseases in people however, these conditions are better studied than many other, more common, inherited disorders in dogs. At least 15 breeds of dogs have been determined to carry a lysosomal storage disease¹ and a very few individual Portuguese Podengos have been affected as well. ¹(http://www.upei.ca/~cidd/Diseases/nervous%20system%20disorders/lysosomal%20storage%20diseases.htm)
How are lysosomal storage diseases diagnosed
These conditions are difficult to diagnose, both because they are very uncommon and because the clinical signs are often vague (eg.depression, behaviour change). Generally the routine diagnostic tests your veterinarian will carry out will show no abnormalities.
Once a lysosomal storage disease is suspected, your veterinarian will submit a blood sample for specific diagnostic tests which are now available for many of these disorders. These tests measure blood levels of the particular enzyme involved, and many can detect carriers of the disorder (who have about 50 per cent normal enzyme levels) as well as affected dogs. For those disorders in which the specific genetic defect has been identified, it is likely that before long there will be a DNA test that can be used to differentiate normal, carrier, and affected dogs.
For the veterinarian: Generally there is a combination of cerebral and cerebellar signs.http://www.upei.ca/~cidd/Diseases/nervous%20system%20disorders/lysosomal%20storage%20diseases.htm
In these disorders, there is a deficiency of a particular enzyme necessary for normal metabolic processes within the body. The result is an accumulation in cells ("storage") of whatever product the enzyme normally acts upon. Cells become swollen and incapable of normal function. Although these conditions can affect many different body systems, most often the clinical signs relate to abnormalities in the nervous system. Typically, animals with a storage disease are normal at birth, fail to grow as rapidly as littermates, and at a consistent age, develop progressive signs of a nervous disorder which will ultimately prove fatal.
These disorders are generally rare. Because of similar diseases in people however, these conditions are better studied than many other, more common, inherited disorders in dogs. At least 15 breeds of dogs have been determined to carry a lysosomal storage disease¹ and a very few individual Portuguese Podengos have been affected as well. ¹(http://www.upei.ca/~cidd/Diseases/nervous%20system%20disorders/lysosomal%20storage%20diseases.htm)
How are lysosomal storage diseases diagnosed
These conditions are difficult to diagnose, both because they are very uncommon and because the clinical signs are often vague (eg.depression, behaviour change). Generally the routine diagnostic tests your veterinarian will carry out will show no abnormalities.
Once a lysosomal storage disease is suspected, your veterinarian will submit a blood sample for specific diagnostic tests which are now available for many of these disorders. These tests measure blood levels of the particular enzyme involved, and many can detect carriers of the disorder (who have about 50 per cent normal enzyme levels) as well as affected dogs. For those disorders in which the specific genetic defect has been identified, it is likely that before long there will be a DNA test that can be used to differentiate normal, carrier, and affected dogs.
For the veterinarian: Generally there is a combination of cerebral and cerebellar signs.http://www.upei.ca/~cidd/Diseases/nervous%20system%20disorders/lysosomal%20storage%20diseases.htm
Last edited by Admin on Sun Aug 09, 2009 7:32 pm; edited 1 time in total (Reason for editing : update)
