The clinical syndrome produced in each of the lysosomal storage disease results from the aberrant storage of metabolites within cells. The storage diseases usually affect multiple organs but some, such as those that are caused by a defect in the myelin degradation pathway, may only cause neurological signs.
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The mucopolysaccharidoses involve a failure to degrade glycosaminoglycans (major components of cartilage) and they often involve skeletal deformity.
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==Diagnosis==
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===Clinical Signs===
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Many of the lysosomal storage diseases are associated with neurological signs.
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===Laboratory Tests===
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Lysosonal storage disease often result in changes in leucocytic morphology which can be detected on a blood smear.
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===Diagnostic Imaging===
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===Other Tests===
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Since genetic techniques have become more widely available and easily performed, it is often possible to characterise the genetic defect directly by determining the sequence encoding enzymes thought to be deficient. However, it should be remembered that several lysosomal storage diseases result from alterations in post-translational processes such as cellular trafficking.